126 results on '"Mukhopadhyay, Kanchan"'
Search Results
102. Involvement of in vivo induced cheY-4 gene of Vibrio cholerae in motility, early adherence to intestinal epithelial cells and regulation of virulence factors
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Banerjee, Rajat, Das, Soumita, Mukhopadhyay, Kanchan, Nag, Sanjay, Chakrabortty, Amit, and Chaudhuri, Keya
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VIBRIO cholerae ,MICROBIAL virulence - Abstract
Using a global transcription profile approach cheY-4 of Vibrio cholerae was identified as an in vivo induced gene. In the present study, duplication of the gene in the chromosome resulted in increased motility, increased chemotactic response towards isolated intestinal mucus layer and stronger adhesion to human intestinal epithelial cell line at an early phase of infection compared to wild type and a null mutant strain. In contrast to the cheY-4 null mutant, duplication of cheY-4 gene resulted in increased expression of ctxAB and tcpA, the two major virulence genes of V. cholerae. [Copyright &y& Elsevier]
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- 2002
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103. Heterocyclic systems. Part 6. Reactions of 4-oxo-4H-[1]benzopyran-3-carbonitriles with hydrazine, phenylhydrazine, hydroxylamine, and some reactive methylene compounds.
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Ghosh, Chandrakanta, SinhaRoy, Dilip K., and Mukhopadhyay, Kanchan K.
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- 1979
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104. Association of dopamine D4 receptor (DRD4) polymorphisms with attention deficit hyperactivity disorder in Indian population
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Bhaduri, Nipa, Das, Manali, Sinha, Swagata, Chattopadhyay, Anindita, Gangopadhyay, Prasanta Kumar, Chaudhuri, Keya, Singh, Manoranjan, and Mukhopadhyay, Kanchan
- Abstract
Attention deficit hyperactivity disorder (ADHD) is a childhood onset neurobehavioral disorder. Several studies worldwide have implicated a possible association between ADHD and transmission of different polymorphisms of the dopamine D4 receptor gene (DRD4) in different ethnic groups. However, this is the first report on the transmission of different polymorphisms of DRD4 in Indian subjects. Association of 5′ flanking 120‐bp duplication, exon 1 12‐bp duplication, and exon 3 48‐bp variable numbers of tandem repeats (VNTR) were analyzed in 50 ADHD cases. Haplotype‐based haplotype relative risk (HHRR) analysis and transmission disequilibrium test (TDT) were carried out to ascertain the association of these polymorphisms with the disorder. Linkage disequilibria (LD) between the polymorphisms were calculated using EH+ and 2LD programs. Our preliminary data showed lack of association between ADHD and transmission of the 5′ flanking 120‐bp duplication and exon 1 12‐bp duplication. But, the transmissions of 6 and 7 repeat alleles of exon 3 48‐bp VNTR showed significant association with ADHD. We have also examined the haplotype frequencies and biased transmission of one haplotype was observed in ADHD probands. LD analysis showed very strong disequilibrium between exon 1 12‐bp duplication and exon 3 48‐bp VNTR. Strong LD was also observed between the 5′ flanking 120‐bp duplication and exon 1 12‐bp duplication. The observed association between higher repeat alleles of exon 3 48‐bp VNTR and Indian ADHD children is consistent with some of the earlier reports. © 2005 Wiley‐Liss, Inc.
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- 2006
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105. Use of RNA Arbitrarily Primed-PCR Fingerprinting To Identify Vibrio choleraeGenes Differentially Expressed in the Host following Infection
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Chakrabortty, Amit, Das, Soumita, Majumdar, Sabita, Mukhopadhyay, Kanchan, Roychoudhury, Susanta, and Chaudhuri, Keya
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ABSTRACTEvidence suggests that a repertoire of Vibrio choleraegenes are differentially expressed in vivo, and regulation of virulence factors in vivo may follow a different pathway. Our work was aimed at characterization of in vivo-grown bacteria and identification of genes that are differentially expressed following infection by RNA arbitrarily primed (RAP)-PCR fingerprinting. The ligated rabbit ileal loop model was used. The motility of in vivo-grown bacteria increased by 350% over that of in vitro-grown bacteria. Also, the in vivo-grown cells were more resistant to killing by human serum. By using the RAP-PCR strategy, five differentially expressed transcripts were identified. Two in vitro-induced transcripts encoded polypeptides for the leucine tRNA synthatase and the 50S ribosomal protein, and the three in vivo-induced transcripts encoded the SucA and MurE proteins and a polypeptide of unknown function. MurE is a protein involved in the peptidoglycan biosynthetic pathway. The lytic profiles of in vivo- and in vitro-grown cells suspended in distilled water were compared; the former was found to be slightly less sensitive to lysis. Ultrathin sections of both cells observed under the transmission electron microscope revealed that in contrast to the usual wavy discontinuous membrane structure of the in vitro-grown cells, in vivo-grown cells had a more rigid, clearly visible double-layered structure. The V. cholerae murEgene was cloned and sequenced. The sequence contained an open reading frame of 1,488 nucleotides with its own ribosome-binding site. A plasmid containing the murEgene of V. choleraewas transformed into V. cholerae569B, and a transformed strain, 569BME, containing the plasmid was obtained. Ultrathin sections of 569BME viewed under a transmission electron microscope revealed a slightly more rigid cell wall than that of wild-type 569B. When V. cholerae569B and 569BME cells were injected separately into ligated rabbit ileal loops, the transformed cells had a preference for growth in the ileal loops versus laboratory conditions.
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- 2000
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106. MAOA exon 8 941T > G Fnu4HI polymorphism: Actual rs number
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Das, Manali and Mukhopadhyay, Kanchan
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No Abstract.
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- 2009
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107. Analysis of cystathionine -synthase 31 bp variable number tandem repeats in mentally retarded patients
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Dutta, Samikshan, Sinha, Swagata, and Mukhopadhyay, Kanchan
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- 2007
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108. Screening of rural children in West Bengal for Fragile-X syndrome.
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Dutta, Samikshan, Das, Manali, Bhowmik, Aneek Das, Sinha, Swagata, Chattopadhyay, Anindita, and Mukhopadhyay, Kanchan
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FRAGILE X syndrome , *MEDICAL screening , *RURAL children , *DISEASES - Abstract
Background & objectives: Screening for Fragile X syndrome (FRAXA), the most common genetic cause for mental retardation (MR), has mostly been carried out among MR patients. The present study was conducted to find out prevalence of FRAXA amongst children residing in the rural areas of West Bengal. Methods: Demographic details including age, sex, nutritional status as well as birth, medical and developmental histories, were collected amongst rural children (n=38,803) of West Bengal, India, over three years (2004-2007). Based on the records of scholastic backwardness, 179 children were short-listed and examined by a team of experts comprising of child psychiatrist, clinical psychologist, paediatrician and special educator. Blood samples were collected and molecular and cytogenetic studies were performed for identification of CGG repeats and determination of FMR1 gene promoter methylation. Results: Of the selected 179 children, six were diagnosed as Down syndrome, one as cerebral palsy and 140 as non-syndromic MR. These 140 children with MR were grouped as mild (56), moderate (60), and severely (4) retarded based on IQ; children <5 yr were grouped as developmental delay (20). FRAXA was not detected in any of these children (frequency being 0% with 0-.02% confidence interval). Prevalence of MR was found to be low (about 4/1000 children). Down syndrome also had a lower frequency (0.15/1000 children). Interpretation & conclusion: The data obtained in the present study indicated that familial disorders like FRAXA were less frequent in the studied population. [ABSTRACT FROM AUTHOR]
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- 2009
109. Indian ASD probands with 25(OH)D and vitamin D binding protein deficiency exhibited higher severity.
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Shom S, Saha S, Chatterjee M, Sinha S, and Mukhopadhyay K
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- Humans, Male, Female, Child, Polymorphism, Single Nucleotide, India epidemiology, Severity of Illness Index, Genetic Predisposition to Disease, Case-Control Studies, Haplotypes, Genotype, Child, Preschool, Adolescent, Vitamin D-Binding Protein genetics, Autism Spectrum Disorder genetics, Autism Spectrum Disorder blood, Vitamin D blood, Vitamin D analogs & derivatives, Vitamin D Deficiency genetics, Vitamin D Deficiency blood
- Abstract
The severity of autism spectrum disorder (ASD) shows wide variations, though the reason remains unclear. Vitamin D (VitD) deficiency is considered a risk factor for ASD and its supplementation was reported to reduce symptom severity. Since VitD, either synthesized in the skin or absorbed from the food, is transported to the liver by the vitamin D binding protein (DBP), we have analyzed DBP genetic polymorphisms [rs7041 (A/C), rs4588 (G/T), and rs3755967 (C/T)] affecting DBP function [Case = 411; Control = 397], levels of plasma 25(OH)D and DBP [Case = 25; Control = 26], and DBP mRNA expression [Case = 74; Control = 44] in a group of Indo-Caucasoid ASD probands and neurotypical subjects. ASD probands with rs7041'CC', rs4588 'TT', and rs3755967 'TT' genotypes exhibited higher scores for a few traits. Scores for Imitation and Listening response were also higher in the presence of the "A-T" haplotype (rs7041-rs4588). Plasma 25(OH)D and DBP levels as well as DBP mRNA expressions were significantly lower in the ASD probands as compared to the neurotypical subjects. We infer that DBP deficiency, in the presence of risk genetic variants, could be one of the reasons for the reported 25(OH)D deficiency of the ASD probands., (© 2024. The Author(s).)
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- 2024
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110. Metabotropic glutamate receptor genetic variants and peripheral receptor expression affects trait scores of autistic probands.
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Dutta N, Chatterjee M, Saha S, Sinha S, and Mukhopadhyay K
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- Humans, Child, Gene Expression, Glutamic Acid, Autistic Disorder genetics, Autism Spectrum Disorder genetics, Receptors, Metabotropic Glutamate genetics
- Abstract
Glutamate (Glu) is important for memory and learning. Hence, Glu imbalance is speculated to affect autism spectrum disorder (ASD) pathophysiology. The action of Glu is mediated through receptors and we analyzed four metabotropic Glu receptors (mGluR/GRM) in Indo-Caucasoid families with ASD probands and controls. The trait scores of the ASD probands were assessed using the Childhood Autism Rating Scale2-ST. Peripheral blood was collected, genomic DNA isolated, and GRM5 rs905646, GRM6 rs762724 & rs2067011, and GRM7 rs3792452 were analyzed by PCR/RFLP or Taqman assay. Expression of mGluRs was measured in the peripheral blood by qPCR. Significantly higher frequencies of rs2067011 'A' allele/ AA' genotype were detected in the probands. rs905646 'A 'exhibited significantly higher parental transmission. Genetic variants showed independent as well as interactive effects in the probands. Receptor expression was down-regulated in the probands, especially in the presence of rs905646 'AA', rs762724 'TT', rs2067011 'GG', and rs3792452 'CC'. Trait scores were higher in the presence of rs762724 'T' and rs2067011 'G'. Therefore, in the presence of risk genetic variants, down-regulated mGluR expression may increase autistic trait scores. Since our investigation was confined to the peripheral system, in-depth exploration involving peripheral as well as central nervous systems may validate our observation., (© 2024. The Author(s).)
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- 2024
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111. Glutamate receptor genetic variants affected peripheral glutamatergic transmission and treatment induced improvement of Indian ADHD probands.
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Chatterjee M, Saha S, Shom S, Dutta N, Sinha S, and Mukhopadhyay K
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- Humans, Child, Genotype, Phenotype, Receptors, Glutamate genetics, Glutamic Acid genetics, Attention Deficit Disorder with Hyperactivity drug therapy, Attention Deficit Disorder with Hyperactivity genetics, Methylphenidate pharmacology, Methylphenidate therapeutic use
- Abstract
Attention deficit hyperactivity disorder (ADHD), a childhood-onset neurobehavioral disorder, often perturbs scholastic achievement and peer-relationship. The pivotal role of glutamate (Glu) in learning and memory indicated an influence of Glu in ADHD, leading to the exploration of Glu in different brain regions of ADHD subjects. We for the first time analyzed GluR genetic variations, Glu levels, as well as expression of Glu receptors (GluR) in the peripheral blood of eastern Indian ADHD probands to find out the relevance of Glu in ADHD prognosis. After obtaining informed written consent for participation, peripheral blood was collected for analyzing the genetic variants, Glu level, and expression of target genes. Since ADHD probands are often treated with methylphenidate or atomoxetine for providing symptomatic remediation, we have also tested post-therapeutic improvement in the ADHD trait scores in the presence of different GluR genotypes. Two variants, GRM7 rs3749380 "T" and GRIA1 rs2195450 "C", exhibited associations with ADHD (P ≤ 0.05). A few GluR genetic variants showed significant association with higher trait severity, low IQ, lower plasma Glu level, down-regulated GluR mRNA expression, and poor response to medications. This indicates that down-regulated glutamatergic system may have an effect on ADHD etiology and treatment efficacy warranting further in-depth investigation., (© 2023. The Author(s).)
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- 2023
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112. Analysis of neurotransmitters validates the importance of the dopaminergic system in autism spectrum disorder.
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Saha S, Chatterjee M, Dutta N, Sinha S, and Mukhopadhyay K
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- Humans, Genotype, Dopamine genetics, Receptors, Dopamine D4 genetics, Receptors, Dopamine D4 metabolism, Alleles, Neurotransmitter Agents genetics, RNA, Messenger metabolism, Autism Spectrum Disorder genetics
- Abstract
Background: The reasons behind the cardinal symptoms of communication deficits and repetitive, stereotyped behaviors that characterize autism spectrum disorder (ASD) remain unknown. The dopamine (DA) system, which regulates motor activity, goal-directed behaviors, and reward function, is believed to play a crucial role in ASD, although the exact mechanism is still unclear. Investigations have shown an association of the dopamine receptor D4 (DRD4) with various neurobehavioral disorders., Methods: We analyzed the association between ASD and four DRD4 genetic polymorphisms, 5' flanking 120-bp duplication (rs4646984), rs1800955 in the promoter, exon 1 12 bp duplication (rs4646983), and exon 3 48 bp repeats. We also examined plasma DA and its metabolite levels, DRD4 mRNA expression, and correlations of the studied polymorphisms with these parameters by case-control comparative analyses. The expression of DA transporter (DAT), which is important in regulating the circulating DA level, was also evaluated., Results: A significantly higher occurrence of rs1800955 "T/TT" was observed in the probands. ASD traits were affected by rs1800955 "T" and the higher repeat alleles of the exon 3 48 bp repeats, rs4646983 and rs4646984. ASD probands exhibited lower DA and norepinephrine levels together with higher homovanillic acid levels than the control subjects. DAT and DRD4 mRNA expression were down-regulated in the probands, especially in the presence of DAT rs3836790 "6R" and rs27072 "CC" and DRD4 rs4646984 higher repeat allele and rs1800955 "T"., Conclusion: This pioneering investigation revealed a positive correlation between genetic variants, hypodopaminergic state, and impairment in socio-emotional and communication reciprocity in Indian subjects with ASD, warranting further in-depth analysis., (© 2023. Children's Hospital, Zhejiang University School of Medicine.)
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- 2023
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113. LRRTM3 Genetic Variations, rs1925575, and rs1925608 Contributed to Autism Spectrum Disorder Trait Severity: An Observation in The Indian Probands.
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Dutta N, Saha S, Chatterjee M, Sinha S, and Mukhopadhyay K
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Surface proteins containing leucine-rich repeat (LRR) are essential for the formation of synapses. Therefore, proteins containing aberrant LRR regions are speculated to cause synaptic dysfunction, an abnormality often associated with Autism spectrum disorder (ASD). LRR transmembrane 3 (LRRTM3) genetic variants showed association with ASD in the Caucasoid probands. We for the first time, analyzed two LRRTM3 genetic variants, rs1925575, and rs1925608, in Indian subjects (N=1048), including ASD probands (N=270), their parents (N=428), and healthy controls (N=350). ASD severity was assessed by the Childhood Autism Rating Scale2-standard test (CARS2-ST). Peripheral blood was collected after obtaining informed written consent for participation, and target sites were amplified by polymerase chain reaction using genomic DNA. Amplicons generated were subjected to differential digestion using a restriction enzyme, and the genotype data were analyzed for association with ASD by both population and family-based methods. Frequencies of rs1925608 and rs1925575 "CC" genotypes and C-C haplotype were higher in the probands (P=0.001). Analysis of parental data revealed a higher frequency of rs1925575 "T" in the fathers (P=0.01) and biased paternal transmission of rs1925575 "C" allele (P=0.03). The "Activity level" was higher in the ASD probands having rs1925608 "CC". Additionally, the score for "Relating to people" was higher in the presence of rs1925575 "TC" genotypes. The gender-based stratified analysis revealed the influence of the variants on a higher number of traits of the female probands. This pilot investigation indicated an influence of LRRTM3 genetic variants on the trait severity of Indian ASD probands., (© The Author(s).)
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- 2023
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114. A three-pronged analysis confirms the association of the serotoninergic system with attention deficit hyperactivity disorder.
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Chatterjee M, Saha S, Sinha S, and Mukhopadhyay K
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- Adolescent, Humans, Serotonin genetics, Hydroxyindoleacetic Acid, Genotype, RNA, Messenger, Serotonin Plasma Membrane Transport Proteins genetics, Attention Deficit Disorder with Hyperactivity genetics, Attention Deficit Disorder with Hyperactivity diagnosis
- Abstract
Background: The serotonin transporter (SERT), encoded by the solute carrier family 6 number 4 (SLC6A4) gene, controls serotonin (5-HT) availability and is essential for the regulation of behavioral traits. Two SLC6A4 genetic variants, 5-HTTLPR and STin2, were widely investigated in patients with various neurobehavioral disorders, including attention deficit hyperactivity disorder (ADHD)., Methods: We analyzed the association of the 5-HTTLPR (L/S) and STin2 (10/12) variants, plasma 5-HT, and 5-hydroxyindole acetic acid (5-HIAA), as well as SERT messenger RNA (mRNA) with ADHD in the eastern Indian subjects. Nuclear families with ADHD probands (n = 274) and ethnically matched controls (n = 367) were recruited following the Diagnostic and Statistical Manual of Mental Disorders. Behavioral traits, executive function, and intelligence quotient (IQ) of the probands were assessed using the Conner's Parent Rating Scale - Revised, Parental Account of Children's Symptoms (PACS), Barkley Deficit in Executive Functioning-Child and Adolescent Scale, and Wechsler Intelligence Scale for Children-III, respectively. After obtaining informed written consent, peripheral blood was collected to analyze genetic variants, plasma 5-HT, 5-HIAA, and SERT mRNA expression., Results: ADHD probands showed a higher frequency of the 5-HTTLPR "L" allele and "L/L" genotype (P < 0.05), lower 5-HIAA level, and higher SERT mRNA expression. Scores for behavioral problems and hyperactivity were higher in the presence of the "S" allele and "S/S" genotype, while executive deficit was higher in the presence of the "L" allele. IQ score was lower in the presence of the STin2 "12" allele and L-12 haplotype., Conclusion: Data obtained indicate a significant association of the serotoninergic system with ADHD, warranting further in-depth investigation., (© 2022. Children's Hospital, Zhejiang University School of Medicine.)
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- 2022
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115. Specific dopaminergic genetic variants influence impulsivity, cognitive deficit, and disease severity of Indian ADHD probands.
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Maitra S, Chatterjee M, Roychowdhury A, Panda CK, Sinha S, and Mukhopadhyay K
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- Child, Humans, Catechol O-Methyltransferase genetics, Cognition, Dopamine, Impulsive Behavior, Severity of Illness Index, Attention Deficit Disorder with Hyperactivity diagnosis, Attention Deficit Disorder with Hyperactivity genetics
- Abstract
Background: Impulsivity (Imp), being one of the cardinal symptoms of Attention Deficit Hyperactivity Disorder (ADHD), often leads to inappropriate responses to stimuli. Since the dopaminergic system is the primary target for pharmaceutical intervention in ADHD, we investigated the association between ADHD-related Imp and functional gene variants of the dopamine transporter (SLC6A3) and catechol-O-methyltransferase involved in dopamine clearance., Methods and Results: Indo-Caucasoid families with ADHD probands (N = 217) were recruited based on the Diagnostic and Statistical Manual of Mental Disorders (DSM). Imp of the probands was assessed using the Domain Specific Imp Scale for Children and DSM. Peripheral blood was collected after obtaining informed written consent for participation, genomic DNA was isolated, and target sites were genotyped by DNA sequencing. The association of genetic variants with Imp was examined by the Quantitative trait analysis (QTA) and Analysis of variance (ANOVA). Post-Hoc analysis following QTA and ANOVA showed significant associations of rs2254408, rs2981359, and rs2239393 with different domains of Imp (P < 0.05). Various haplotypic combinations also showed statistically significant associations with Imp (P < 0.05). Multifactor dimensionality reduction models revealed strong effects of the variants on Imp. ADHD probands harboring the risk alleles exhibited a deficit in performance during cognitive assessment. Longitudinal follow-up revealed a significant association of rs2254408 with trait persistence., Conclusion: The present study indicates the influence of the studied genetic variants on ADHD-associated imp, executive deficit, and disease persistence. Thus, these variants may be helpful as predictors for the success of individual therapeutic sessions during cognitive training., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)
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- 2022
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116. GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.
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Saha S, Chatterjee M, Dutta N, Sinha S, and Mukhopadhyay K
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- Asian People, Humans, Autism Spectrum Disorder genetics, Polymorphism, Single Nucleotide, Receptors, GABA genetics, Receptors, GABA-A genetics, gamma-Aminobutyric Acid blood
- Abstract
Altered signaling of the chief inhibitory neurotransmitter, gamma-aminobutyric acid (GABA), has been speculated in the etiology of autism spectrum disorder (ASD). We have investigated the association of six GABA
A -receptor genetic variants and plasma GABA levels with ASD. Subjects were recruited based on the DSM, and CARS2-ST and ADI-R assessed disease severity. Peripheral blood was collected from the ASD probands (N = 251), their parents, and ethnically matched controls (N = 347). A positive correlation between the CARS2-ST and ADI-R scores was observed; domain scores of ADI-R were higher in the severe group categorized by the CARS2-ST. GABRB3 rs1432007 "A," GABRG3 rs897173 "A," and GABRA5 rs140682 "T" showed significant association with ASD. Trait scores were influenced by rs1432007 "AA" and rs140682 "TT." GABA level was significantly higher in the probands than the age-matched controls. Our findings indicate an influence of GABA in the etiology of ASD in the Indian probands., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)- Published
- 2022
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117. Analysis of association between components of the folate metabolic pathway and autism spectrum disorder in eastern Indian subjects.
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Saha S, Saha T, Rajamma U, Sinha S, and Mukhopadhyay K
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- Alleles, Asian People genetics, Autism Spectrum Disorder genetics, Case-Control Studies, Cystathionine beta-Synthase genetics, Folic Acid genetics, Gene Frequency genetics, Genetic Predisposition to Disease genetics, Genotype, Glycine Hydroxymethyltransferase genetics, Haplotypes genetics, Humans, India epidemiology, Metabolic Networks and Pathways genetics, Methylenetetrahydrofolate Dehydrogenase (NADP) genetics, Methylenetetrahydrofolate Reductase (NADPH2) genetics, Polymorphism, Single Nucleotide genetics, Autism Spectrum Disorder metabolism, Folic Acid metabolism
- Abstract
Background: Folate has a pivotal role in maintaining different cellular processes including DNA integrity and neurotransmitter levels. Further, folate deficiency was reported in subjects with neuropsychiatric disorders including autism spectrum disorder (ASD)., Methods and Results: We recruited ASD probands following the Diagnostic and Statistical Manual of Mental Disorder-IV/-5. Severity was assessed by the Childhood Autism Rating Scale2-Standard Test (CARS2-ST). Functional SNPs in reduced folate carrier1 (rs1051266), methylenetetrahydrofolate dehydrogenase (rs2236225), methylenetetrahydrofolate methyltransferase (rs1805087), methylenetetrahydrofolate reductase (rs1801133 and rs1801131), cystathionine-beta- synthase (rs5742905), and serine hydroxymethyltransferase (rs1979277) genes were analyzed in the ASD probands (N = 203), their parents and controls (N = 250) by PCR/TaqMan based methods. Plasma homocysteine and vitamin B12 levels were examined by Enzyme-Linked ImmunoSorbent Assay. Statistical analysis revealed higher frequencies of rs1051266 and rs1805087 "A" alleles (P = 8.233e-005 and P = 0.010 respectively) and rs1051266 "AA" genotype (P = 0.02) in the ASD probands. Gender based stratified analysis revealed higher frequency of rs1051266 "AA" in the male probands (P = 0.001) while frequencies of rs1805087 "A" (P = 0.001) and "AA" (P < 0.05), and rs2236225 "CC" (P = 0.03) were higher in the females. The case-control analysis also exhibited a significant difference in the occurrence of biallelic and triallelic haplotypes. rs1051266 "A", rs1979277 "T" and rs5742905 "C" alleles showed biased parental transmission (P = 0.02). CARS2-ST scores were higher in the presence of rs5742905 "T" while scores were lower in the presence of rs1979277 "T" and rs1051266 "A". ASD probands showed vitamin B12 deficiency., Conclusion: Based on these observations, we infer that components needed for proper folate metabolism may influence ASD severity in this population., (© 2021. The Author(s), under exclusive licence to Springer Nature B.V.)
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- 2022
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118. Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population.
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Chatterjee M, Saha T, Maitra S, Sinha S, and Mukhopadhyay K
- Abstract
Down syndrome (DS) is associated with trisomy of the 21
st chromosome in more than 95% cases. The extra chromosome mostly derives due to abnormal chromosomal segregation, i.e. non-disjunction, during meiosis. Earlier reports showed that abnormal folate metabolism can lead to DNA hypomethylation and abnormal chromosomal segregation. We analyzed three functional folate gene variants, namely 5-methyltetrahydrofolate-homocysteine methyltransferase rs1805087, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase rs1801394, and reduced folate carrier 1 rs1051266, for contribution in the etiology of DS. Ethnically matched subjects including DS probands (N=183), their parents (N=273), and controls (N=286) were recruited after obtaining informed written consent for participation. Karyotype analysis confirmed trisomy 21 in DS patients recruited. Genomic DNA, purified from peripheral blood leukocytes was used for genotyping of the target sites by PCR based methods, and data obtained was subjected to population- as well as family-based association analysis. Frequency of rs1801394 'G' allele and 'GG' genotype was higher in DS probands (P < 0.0001). Statistically significant higher occurrence of the 'G' allele in parents of DS probands (P < 0.0001) and maternal bias in transmission of the "G" allele was also noticed (P < 0.0001). Genetic model analysis demonstrated rs1801394 "G" as a risk allele under both dominant and recessive models. DS probands also showed higher occurrence of rs1051266 "G" (P = 0.05). Quantitative trait analysis revealed significant negative influence of rs1805087 "A" on birth weight. Screening for rs1801394 "G" could be useful in monitoring the risk of DS, at least in the studied population.- Published
- 2020
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119. A single nucleotide polymorphism in OPRM1 (rs483481) and risk for heroin use disorder.
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Koijam AS, Chakraborty B, Mukhopadhyay K, Rajamma U, and Haobam R
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- Adult, Alleles, Case-Control Studies, Female, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide genetics, Risk Factors, Young Adult, Genetic Predisposition to Disease, Genotype, Heroin Dependence genetics, Receptors, Opioid, mu genetics
- Abstract
Opioid receptor mu1 (OPRM1) is the target of many opioid drugs, and it is known to have affinity toward both endogenous and exogenous opioids, opiate and opioid analgesic drugs. The present study was undertaken to explore association of single nucleotide polymorphisms (SNPs) in the OPRM1 gene with heroin use disorder. Ten OPRM1 polymorphisms were analyzed in 132 cases and 147 healthy controls. The SNP rs483481 showed significant allelic, genotypic and haplotypic association (Allelic: p -value = 0.003, OR = 1.75, CI = 1.21-2.55) (Genotypic: p -value = 0.003, OR = 1.72, CI = 1.08-2.75) with heroin use disorder. Allelic and genotypic association remained significant even after multiple testing corrections with 1000 permutations. A significant positive correlation between 'Number of times drug abstained' and 'rs483481-AA genotype' ( p -value = 0.002; Pearson correlation = 0.265) was also observed. One-way ANOVA analysis demonstrated significant association of rs483481 with 'number of times drug abstained' (F = 4.86, p -value =0.009). 'A' allele and 'AA' genotype of marker rs483481 seem to confer protective effect while 'G' allele and 'GG' genotype potentiates risk for heroin use disorder. OPRM1 is found to be associated with heroin use disorder in the studied Manipuri cohort. The study suggests that individuals with G allele and GG genotypes at rs483481 could be more vulnerable to heroin dependence, and it could be taken into consideration in prevention and intervention programs.
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- 2020
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120. Significance of Dopaminergic Gene Variants in the Male Biasness of ADHD.
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Das Bhowmik A, Sarkar K, Ghosh P, Das M, Bhaduri N, Sarkar K, Ray A, Sinha S, and Mukhopadhyay K
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- Adolescent, Adult, Alleles, Case-Control Studies, Child, Child, Preschool, Exons, Female, Genotype, Haplotypes genetics, Humans, Male, Minisatellite Repeats, Sex Distribution, Young Adult, Attention Deficit Disorder with Hyperactivity genetics, Dopamine Plasma Membrane Transport Proteins genetics, Polymorphism, Single Nucleotide genetics, Receptors, Dopamine D4 genetics
- Abstract
Objective: ADHD is frequently detected in boys though there is no established cause. One possibility is that genes predisposing to ADHD have sexually dimorphic effects. With an aim to find out the reason for this male biasness, contribution of 14 functional polymorphisms was investigated in ADHD subjects., Method: Genomic DNA of probands, their parents, and ethnically matched controls was subjected to analysis of single-nucleotide polymorphisms and variable number of tandem repeats (VNTRs)., Results: Case-control analysis revealed significant higher occurrence of DAT1 intron 8 VNTR "5R" allele ( p = .028), DBH rs1108580 "A" allele ( p = .027), and MAOA-u VNTR-rs6323 3R-T haplotype ( p = .007) in male probands. Family-based analysis showed significant preferential transmission of Dopamine receptor D4 exon 3 VNTR-rs1800955 7R-T haplotype from parents to male probands ( p = .008). Interaction between DBH gene variants and low enzymatic activity was also noticed, especially in male probands., Conclusion: Data obtained may partly answer the male biasness of ADHD.
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- 2017
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121. Analysis of cystathionine beta-synthase 31 bp variable number tandem repeats in mentally retarded patients.
- Author
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Dutta S, Sinha S, and Mukhopadhyay K
- Subjects
- Genetic Variation, Humans, Minisatellite Repeats, Repetitive Sequences, Nucleic Acid, Cystathionine beta-Synthase genetics, Intellectual Disability genetics
- Published
- 2007
- Full Text
- View/download PDF
122. Analysis of monoamine oxidase A promoter polymorphism in mentally retarded individuals.
- Author
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Das Bhowmik A, Das M, Sinha S, and Mukhopadhyay K
- Subjects
- Down Syndrome genetics, Humans, Minisatellite Repeats, Intellectual Disability enzymology, Intellectual Disability genetics, Monoamine Oxidase genetics, Polymorphism, Genetic, Promoter Regions, Genetic
- Published
- 2007
- Full Text
- View/download PDF
123. Lack of significant association between -1021C-->T polymorphism in the dopamine beta hydroxylase gene and attention deficit hyperactivity disorder.
- Author
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Bhaduri N and Mukhopadhyay K
- Subjects
- Adolescent, Alleles, Child, Child, Preschool, Female, Gene Frequency, Humans, Male, Attention Deficit Disorder with Hyperactivity genetics, Dopamine beta-Hydroxylase genetics, Polymorphism, Genetic
- Abstract
Recent trends in medications for attention deficit hyperactivity disorder (ADHD) suggest that norepinephrine (NE) deficiency may contribute to the disease etiology. Dopamine beta hydroxylase (DBH) is the key enzyme which converts dopamine to NE and since DBH gene is considered a major quantitative trait locus for plasma DBH activity, genetic polymorphism may lead to altered NE neurotransmission. Several polymorphisms including a 5' flanking -1021C-->T polymorphism, was reported to be associated with changed DBH activity and an association between -1021C-->T polymorphism with ADHD was observed in Han Chinese children. We have carried out family-based studies with three polymorphisms in the DBH gene, -1021C-->T polymorphism, exon 2*444g/a and intron 5 TaqI RFLP, to explore their association with Indian ADHD cases. Allele and genotype frequency of these polymorphisms in ADHD cases were compared with that of their parents and a control group. Haplotypes obtained were analyzed for linkage disequilibrium (LD). Haplotype-based haplotype relative risk analysis and transmission disequilibrium test showed lack of significant association between transmission of the polymorphisms and ADHD. A haplotype comprising of allele 1 of all polymorphisms showed a slight positive trend towards transmission from parents to ADHD probands. Strong LD was observed between *444g/a and TaqI RFLP in all the groups. However, low D' values and corresponding log of odds scores in the control group as compared to the ADHD families indicated that, the incidence of the two polymorphisms being transmitted together could be higher in ADHD families.
- Published
- 2006
- Full Text
- View/download PDF
124. Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.
- Author
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Dutta S, Sinha S, Chattopadhyay A, Gangopadhyay PK, Mukhopadhyay J, Singh M, and Mukhopadhyay K
- Abstract
Background: Cystathionine beta-synthase (CBS) mediates conversion of homocysteine to cystathionine and deficiency in enzyme activity may lead to hyperhomocysteinemia/homocystinuria, which are often associated with mental retardation (MR). A large number of polymorphisms have been reported in the CBS gene, some of which impair its activity and among these, a T833C polymorphism in cis with a 68 bp insertion at 844 in the exon 8 is found to be associated with mild hyperhomocysteinemia in different ethnic groups., Methods: The present study is aimed at investigating the association between T833C/844ins68 polymorphism and MR. One hundred and ninety MR cases were recruited after psychometric evaluation. Hundred and thirty-eight control subjects, two hundred and sixty-seven parents of MR probands and thirty cardiovascular disorder (CVD) patients were included for comparison. Peripheral blood was collected after obtaining informed written consent. The T833C/844ins68 polymorphism was investigated by PCR amplification of genomic DNA and restriction fragment length polymorphism analysis, followed by statistical analysis., Results: The genotypic distribution of the polymorphism was within the Hardy-Weinberg equilibrium. A slightly increased genotypic frequency was observed in the Indian control population as compared to other Asian populations. Both haplotype-based haplotype relative risk analysis and transmission disequilibrium test reveled lack of association of the T833C/844ins68 polymorphism with MR; nevertheless, the relative risk calculated was higher (>1) and in a limited number of informative MR families, preferential transmission of the double mutant from heterozygous mothers to the MR probands was noticed (chi2 = 4.00, P < 0.05)., Conclusion: This is the first molecular genetic study of CBS gene dealing with T833C/844ins68 double mutation in MR subjects. Our preliminary data indicate lack of association between T833C/844ins68 polymorphism with MR. However, higher relative risk and biased transmission of the double mutation from heterozygous mothers to MR probands are indicative of a risk of association between this polymorphism with mental retardation.
- Published
- 2005
- Full Text
- View/download PDF
125. Molecular aspects of Down syndrome.
- Author
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Dutta S, Nandagopal K, Gangopadhyay PK, and Mukhopadhyay K
- Subjects
- Animals, Disease Models, Animal, Humans, Mice, Mice, Transgenic, Trisomy genetics, Down Syndrome genetics
- Abstract
Molecular aspects of Down syndrome (DS), a major genetic cause for mental retardation, commonly associated with trisomy 21 are discussed. Two different hypotheses have been speculated to better understand the disease. One believes that increased gene dosage contributes to the phenotypic abnormalities; the other correlates genetic imbalance with DS pathogenesis. To sustain these hypotheses, different murine models have been developed. Experimental models as well as sequencing of human chromosome 21 helped in speculating a few possible candidate genes for DS. However, the phenotypic changes involved with this neurological disorder vis-a-vis the enhanced number of genes, still remain unexplained. Improvement in screening pattern, model system, as well as better understanding of the disease etiology may help in developing efficacious therapeutic regimes for DS.
- Published
- 2005
126. Analysis of polymorphisms in the dopamine beta hydroxylase gene: association with attention deficit hyperactivity disorder in Indian children.
- Author
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Bhaduri N, Sinha S, Chattopadhyay A, Gangopadhyay PK, Singh M, and Mukhopadhyay KK
- Subjects
- Adolescent, Child, Child, Preschool, Female, Genotype, Haplotypes, Humans, India, Linkage Disequilibrium, Male, Polymorphism, Restriction Fragment Length, Attention Deficit Disorder with Hyperactivity genetics, Dopamine beta-Hydroxylase genetics, Polymorphism, Genetic
- Abstract
Objective: To study the association of Attention Deficit Hyperactivity Disorder (ADHD) and polymorphism in the dopamine beta hydroxylase (DBH) gene in Indian ADHD cases., Subjects: Forty one ADHD cases were diagnosed as per the DSM-IV-TR criteria and evaluated by Conners Parents and Teachers Rating Scale and Wechslers Intelligence Scale for Children., Methods: Genomic DNA was amplified for exon 2 *444g/a and intron 5 (Taq I) polymorphism in the DBH gene followed by restriction fragment length polymorphism (RFLP) analysis. Haplotype-based haplotype relative risk (HHRR) was analyzed to ascertain the transmission pattern of these two polymorphisms in ADHD cases. Linkage disequilibrium (LD) between the two polymorphisms was calculated using EH+ and 2LD programs., Results: In the limited number of samples analyzed, a slight increase in transmission of the 444a allele in ADHD subjects was observed for DBH 444g/a. The intron 5 (Taq I) polymorphism showed no significant association with ADHD in these cases. Strong disequilibrium was observed between DBH444g/a and intron 5 (Taq I) polymorphism., Conclusion: This is the first molecular genetic study on ADHD in Indian subjects exploring transmission of polymorphisms in the DBH gene. Preliminary investigation shows a trend towards association between the transmission of DBH444a allele and ADHD. No association was noticed between transmission of intron 5 (Taq I) polymorphism and ADHD in the Indian subjects. Presence of strong LD may point towards co-segregation of these two polymorphisms more often than expected.
- Published
- 2005
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