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Background & Objective: Dystroglycanopathies represent heterogeneous clinical and genetic disorders typically characterized by weakness of the limb muscle. Pathogenic mutations in the GMPPB gene (OMIM # 615320) have been identified in various syndromes, including CMD, LGMD, and CMS. In this present study, our aim is to elucidate the presence of pathogenic mutation in two consanguineous Iranian families affected by LGMD2T. Materials & Methods: Two families with affected children diagnosed with LGMD2T were recruited in the study. Comprehensive clinical examinations were performed by an expert neurologist on the proband and their respective families. Whole-exome sequencing (WES) was performed on genomic DNA extracted from peripheral blood mononuclear cells. Subsequently, candidate variants were identified using a bioinformatics pipeline, and familial co-segregation was confirmed through sanger sequencing. Results: The present study is focused on two families whose identified variants are confirmed. Our findings revealed a heterozygous missense mutation in the GMPPB gene (NM_021971.4, c.308C>T (p. Pro103Leu) that entirely segregated from the observed phenotypes within his family. This variant was not identified in either the Exome Aggregation Consortium or the 1000 Genomes Project. Conclusion: The present findings contribute to the expansion of genetic data for Iranian individuals affected by LGMD2T. This data can be instrumental in enhancing screening, diagnosis, and interpretation within families with a history of this disease. [ABSTRACT FROM AUTHOR]

Statins are inhibitors of β-hydroxy β-methylglutaryl-CoA (HMG-CoA) reductase (HMGCR). They are used in patients with cardiovascular risk and/or suffering with cardiovascular disease. In addition to their efficient lipid-lowering effects, statins exhibit independent so called pleiotropic effects potentially affecting several immune response properties including immune cell activation, migration, cytokine generation, immune metabolism, and survival. Statins also regulate innate and acquired immunity. The focus of this review is to highlight the role of statins in modulating the function and differentiation of various blood cells. Given the proposed wider application of these medicines and their potentially important advantages in treatment of inflammatory and autoimmune disorders, more studies are needed with special focus on the molecular targets of statins included in regulating the immune response. [ABSTRACT FROM AUTHOR]

Human leukocyte antigen-G (HLA-G) has immune-modulatory functions. Although the role of genetic variant HLA-G (rs1063320) in susceptibility to human papillomavirus (HPV) infection has been widely considered, it is still a matter of discussion. In order to shed light on the issue, we, therefore, conducted a meta-analysis to evaluate the common impact of the HLA-G (rs1063320) variant on susceptibility to HPV infection. Subsequently, the distribution of genotypes, genotyping techniques and ethnicity groups was collected, and general analyses were performed. A total number of five studies with 953 cases and 877 controls were found to meet our criteria. The polymorphism of HLA-G (rs1063320) was evaluated. This is the first meta-analysis to explore the connection between the HLA-G 3′ UTR + 3142C/G (rs1063320) genetic variant and the risk of HPV infection. Our results showed no association between the variant of HLA-G 3′ UTR + 3142C/G (rs1063320) and susceptibility to HPV infection in studied target populations. What is already known on this subject? Human papillomavirus (HPV) is the most widespread sexually transmitted infection in both men and women all over the world. It is correlated with prominent load of diseases and malignancies, including anogenital warts and anogenital and oropharyngeal cancers. In recent years, several studies manifested that different SNPs located on special genes seems to influence HPV infection risk. Whatthe results of this study add? Our findings disclosed no relation between the variant of HLA-G 3′ UTR + 3142C/G (rs1063320) and vulnerability to HPV infection in the target individuals. What are the implications of these findings for clinical practice and/or further research? The findings in current survey may offer a basis for further study on HLA-G variant in future investigation. [ABSTRACT FROM AUTHOR]

Background: As the most prevalent form of liver cancer, hepatocellular carcinoma (HCC) ranks the fifth highest cause of cancer-related death worldwide. Despite recent advancements in diagnostic and therapeutic techniques, the prognosis for HCC is still unknown., Objectives: This study aimed to identify potential genes contributing to HCC pathogenicity., Materials and Methods: To this end, we examined the GSE39791 microarray dataset, which included 72 HCC samples and 72 normal samples. An investigation of co-expression networks using WGCNA found a highly conserved blue module with 665 genes that were strongly linked to HCC., Results: APOF , NAT2 , LCAT , TTC36 , IGFALS , ASPDH , and VIPR1 were the blue module's top 7 hub genes. According to the results of hub gene enrichment, the most related issues in the biological process and KEGG were peroxisome organization and metabolic pathways, respectively. In addition, using the drug-target network, we discovered 19 FDA-approved medication candidates for different reasons that might potentially be employed to treat HCC patients through the modulation of 3 hub genes of the co-expression network ( LCAT , NAT2 , and VIPR1 ). Our findings also demonstrated that the 3 scientifically validated miRNAs regulated the co-expression network by the VIPR1 hub gene., Conclusion: We found co-expressed gene modules and hub genes linked with HCC advancement, offering insights into the mechanisms underlying HCC progression as well as some potential HCC treatments., Competing Interests: The authors declare that there is no conflict of interest., (Copyright: © 2021 The Author(s); Published by Iranian Journal of Biotechnology.)