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In animal husbandry, feed efficiency is a crucial economic trait. The feed conversion ratio (FCR) is a traditional metric for assessing feed efficiency, defined as the ratio of dry matter intake to average daily gain. Improving FCR parameter in breeding is highly important for sheep production. Sire rams with better FCR indicators produce offspring with higher value of this indicator. With the rapid development of science and technology (DNA analysis), more opportunities for breeding using genetic markers associated with various productive traits exist. Calpastatin (CAST) plays a key role in skeletal muscle development and is involved in protein metabolism, muscle growth and development, and fat deposition. This study aimed to analyze CAST gene polymorphisms and their relationship with FCR in the Latvian Dark-head (LT; Latvijas tumšgalve) breed. After control fattening, blood samples were collected from 48 offspring of LT sires for DNA isolation. Exons of CAST gene and flanking intron regions were sequenced using NGS technology. The CAST gene has been sequenced in LT lambs for the first time; 43 polymorphisms with known ID numbers were identified. From all loci, 18 were rear: minor alleles less than 10%. In the case of SNPs: rs408766737, FCR values of lambs homozygous for the rear allele were statistically significantly lower than the rest of the animals from the experimental cohort. Therefore, CAST gene SNPs have the potential to be molecular markers to predict the FCR value.

The chapter focuses on how different cutting-edge techniques can be used to study electrophysiological, pathomorphological, and biochemical changes in the “epileptic focus” area of the cerebral cortex and white matter to see how epileptic seizures become drug-resistant and how it affects the other regions of the brain. The authors highlight the significance of neuroinflammation and apoptosis in the epilepsy pathogenesis providing EEG characteristics and describing structural changes in the cortex and white matter under such conditions as focal cortical dysplasia and epileptic leukoencephalopathy. Particular focus is given to structural and functional changes in the hippocampus and the role of hippocampal sclerosis in epilepsy. Key conceptions regarding the epileptic focus formation are outlined.

Elektroniskā versija nesatur pielikumus, Tika izpētīta 14q11.2 - 14q23 hromosomas reģiona proteasomu gēnu klastera ģenētiskā daudzveidība Latvijas (LV), Lietuvas (LT) un Taivānas (TW) populācijās. Novērotas atšķirības PSMA6 un PSMC6 gēnu variāciju sadalē. Noteikta asociācija starp pētāmo gēnu polimorfismiem un bērnu astmu LV un TW iedzīvotājiem. PSMC6 un PSMA3 variācijas veicina uzņēmību pret JIA, tās var uzskatīt par riska faktoriem, kas ir atkarīgi no JIA apakštipiem un no dzimuma. PSMB5 un PSMC6 gēnu polimorfismu variācijas izrādījās asociētas ar aptaukošanos kā ģimenes un dzimumu specifiskie riska faktori. Tika pieradīta PSMA6 / PSMC6 / PSMA3 gēnu kombinācijas dzimumam specifiska asociācija starp JIA apakštipiem un proteasomu koncentrāciju asins plazmā. Pēc in silico analīzes datiem pētāmo polimorfismu varianti var mainīt transkripcijas faktoru piesaistīšanās vietas un mikroRNS sastāvu, tas var būtiski modulēt saistīto gēnu transkripciju un rezultātā – ietekmēt uzņēmību pret slimībām., The genetic diversity of proteasome genes located in 14q11.2 - 14q23 chromosomal region was investigated in Latvian (LV), Lithuanian (LT) and Taiwanese (TW) populations. Significant differences were revealed in distribution of PSMA6 and PSMC6 genes variations. Our results suggest an association of the investigated polymorphisms with bronchial asthma in LV and TW. Variations at the PSMA6, PSMC6 and PSMA3 genes contribute to JIA subtype- and sex-specific susceptibility. Variations at the PSMB5 and PSMC6 genes could be suggested as OB familial and sex-specific risk factors. The sex-specific association of PSMA6/PSMC6/PSMA3 genetic variants with subtypes of JIA and plasma proteasome concentrations was revealed. In silico analysis reveals that the studied nucleotide substitutions modify transcription factor binding sites and miRNAs, this can significantly modulate the transcription of related genes and influence the diseases susceptibility.

Galvenais visu D vitamīna metabolītu saistīšanas vai transportēšanas proteīns ir GC gēns. GC gēna ģenētiskās variācijas ir saistītas ar dažādām autoimūnām slimībām, kā 1. tipa cukura diabētu (1TCD) dažādās populācijas. GC gēna polimorfismi rs4588 un rs7041 tiek pētīti kā potenciāli 1. tipa cukura diabēta ietekmējoši faktori. Šī pētījuma mērķis bija analizēt GC gēna viena nukleotīda polimorfisma (SNP; single nucleotide polymorphism) rs4588 A>C un rs7041 T>G asociāciju ar 1. tipa cukura diabētu Latvijas populācijā. Lai noskaidrotu šo abu polimorfismu potenciālo ietekmi uz saslimšanas iespējamību, tika genotipēti 185 1. tipa cukura diabēta slimnieku DNS paraugi un 253 kontroles grupas paraugi, izmantojot restrikcijas fragmentu garumu polimorfisma metodi. Statistiskās analīzes rezultātā tika konstatēts, ka biežas alēles C (rs4588) un G (rs7041), kā arī homozigota GG (rs7041), ir statistiski nozīmīgas saistībā ar 1TCD attīstības risku Latvijas populācijā (C (rs4588): p = 2,87 x10-2; ORA = 1,37, CI 95% [1,03 – 1,82], G (rs7041): p = 2,59 x10-2; ORA = 1,45, CI 95% [0,85 – 2,08]). Haplotipu analīzes rezultātā tika noskaidrots, ka T-A un G-A ir iespējami 1TCD risku samazinoši faktori, un T-C kā iespējams slimības risku palielinošs. Statistiskās analīzes rezultātā tika konstatēts, ka biežo alēļu divu lokusu genotips GG-CC būtiski palielina slimības risku ar augstu statistisko nozīmīgumu, toties rets divu lokusu GG-TT genotips tika identificēts kā ļoti nozīmīgs iespējams molekulārais marķieris, kas pēc izteikti zemās OR vērtības ievērojami samazina 1TCD risku. Lai uzzinātu vairāk par polimorfismu funkcionālo nozīmi, tika izmantota bioinformātiskā analīze, kuras rezultātā tika noskaidrots, ka abu polimorfismu alēļu nomaiņa spēj ietekmēt transkripcijas faktoru piesaisti, DNS liekšanās spēju, kā arī rs7041 alternatīvās alēles rada atšķirīgas DNS sekundārās struktūras. Apkopojot visus rezultātus, tika secināts, ka GC gēna polimorfismi spēj ietekmēt 1. tipa cukura diabētu saslimšanas risku un, ka tie varētu kļūt par potenciāliem 1. tipa cukura diabēta marķierim Latvijas populācijā., The GC gene is the major binding or transport protein for all vitamin D metabolites. Genetic variations in the GC gene have been linked to various autoimmune diseases, such as type 1 diabetes mellitus (T1DM) in different populations. The GC gene polymorphisms rs4588 and rs7041 are being studied as potential contributing factors to type 1 diabetes. The aim of this study was to analyse the association of the GC gene single nucleotide polymorphism (SNP) rs4588 A/C and rs7041 T/G with type 1 diabetes mellitus in the Latvian population. To determine the potential impact of these two polymorphisms on the likelihood of disease, DNA samples from 185 type 1 diabetics and 253 control group samples were genotyped using the restriction fragment length polymorphism method. As a result of statistical analysis, it was found that common alleles C (rs4588) and G (rs7041), as well as homozygous GG (rs7041), are statistically significant in relation to the risk of developing 1TCD in the Latvian population (C (rs4588)): p = 2.87 x10- 2, ORA = 1.37, CI 95% [1.03 - 1.82], G (rs7041): p = 2.59 x 10-2, ORA = 1.45, CI 95% [0.85 - 2 .08]). Haplotype analysis revealed that T-A and G-A are possible risk-reducing factors for 1TCD and that T-C as a potential risk factor for disease. Static analysis revealed that the two-locus GG-CC genotype of the common allele significantly increases the risk of disease with high statistical significance, while a rare two-locus GG-TT genotype was identified as a very important potential molecular marker that significantly reduced 1TCD after markedly low OR values. risk. To learn more about the functional significance of polymorphisms, bioinformatics analysis was used, which revealed that replacement of both polymorphism alleles could affect transcription factor binding, DNA bending ability, and rs7041 alternative alleles create different DNA secondary structures. After summarizing all the results, it was concluded that GC gene polymorphisms can influence the risk of type 1 diabetes and that they could become potential markers of type 1 diabetes in the Latvian population.

D vitamīna receptors (VDR) nodrošina D vitamīna funkciju izpildi organismā. To kodē VDR – plejotropisks gēns, kas tiek asociēts ar autoimunitāti, dažādām iekaisuma un alerģiskām slimībām, tai skaitā arī bronhiālo astmu (BA). Bronhiālā astma ir ģenētiski sarežģīta un heterogēna hroniska elpceļu iekaisuma slimība. VDR sekvences varianti rs731236 un rs1544410 tiek pētīti kā potenciāli bronhiālas astmas risku ietekmējoši faktori. Šī pētījuma mērķis bija analizēt VDR gēna viena nukleotīda polimorfismu (SNP; single nucleotide polymorphism) rs731236 A/G un rs1544410 C/T asociāciju ar bronhiālo astmu Latvijas populācijā. Lai noskaidrotu šo SNP potenciālo ietekmi uz saslimšanas iespējamību, pēc restrikcijas fragmentu garuma polimorfisma metodes tika genotipēti 110 bronhiālās astmas slimnieku DNS paraugi un 253 kontroles grupas paraugi. Statistiskās analīzes rezultātā konstatējām, ka lokusa rs1544410 retās alēles homozigotais genotips TT ir statistiski būtisks slimības risku palielinošs faktors (p = 4,56 x10 3, ORM = 2,36, CI 95% [1,31 – 4,28]). Starp abiem lokusiem noteikta vidēji stipra nelīdzsvarotības saistība (LD; linkage disequilibrium) pētījuma kontroles grupā (p, Vitamin D receptor (VDR) provides vitamin D functions in the body. It is encoded by VDR, a pleotropic gene associated with autoimmunity, various inflammatory and allergic diseases, including bronchial asthma (BA). BA is a genetically complex and heterogeneous chronic inflammatory disease of the airways. VDR sequence variants rs731236 and rs1544410 are being studied as potential factors influencing the risk of bronchial asthma. The aim of this study was to analyze the association of the single nucleotide polymorphisms rs731236 and rs1544410 of the VDR gene with bronchial asthma in the Latvian population. To determine the potential impact of this SNP on the likelihood of disease, DNA samples from 110 bronchial asthma patients and 253 healthy controls were genotyped by restriction fragment length polymorphism method. As a result of statistical analysis, we found that the homozygous genotype TT of the rare allele of the locus rs1544410 is a statistically significant factor that increases the risk of the disease (p = 4.56 x10 3, ORM = 2.36, CI 95% [1.31 - 4.28] ). A moderate linkage disequilibrium (LD; linkage disequilibrium) was found between the two loci in the study control group (p

Proteasomālo gēnu polimorfismi ir autoimūnu slimību riska faktori. Lai novērtētu potenciālus multiplās sklerozes (MS) biomarķierus Latvijas populācijā, veicām proteasomālo gēnu PSMA6 un PSMC6 polimorfismu genotipēšanu 280 pacientiem ar MS diagnozi, ko salīdzinājām ar iepriekš ievāktiem datiem no 305 kontrolēm ar mērķi izpētīt iespējamo asociāciju starp šo lokusu polimorfismiem un MS. Tālākā analīzē kombinācijā ar iepriekšējiem PSMA3 polimorfismu genotipēšanas datiem atradām divus klīniski nozīmīgus multi-lokusu genotipus un trīs klīniski nozīmīgus haplotipus. Daļai pētīto polimorfismu novērojām no alēlēm atkarīgas alternatīvas DNS sekundārās struktūras. PSMA6 rs1048990 polimorfisma minorajām alēlēm novērojām potenciālu saistību ar interferona-β terapijas iznākumu, bet iegūtā sadalījumu atšķirība nesasniedza statistisku ticamību., Proteasomal gene polymorphisms have been previously implicated in autoimmune disease. In order to evaluate potential biomarkers for multiple sclerosis (MS), 280 diagnosed MS patients were genotyped for several PSMA6 and PSMC6 proteasomal gene single nucleotide polymorphisms (SNPs). The obtained data were compared with data from 305 controls to investigate the possible association between these polymorphisms and MS. Further analysis including data available on PSMA3 SNP genotypes revealed two multi-locus genotypes and three haplotypes of potential clinical significance. Several investigated SNPs had noticeable allele-dependent alternate DNA secondary structures. Minor alleles of the PSMA6 rs1048990 SNP were found to have a borderline significant difference in distribution between responders and non-responders to interferon-beta therapy.