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首页> 外文期刊>Gene Therapy and Molecular Biology >Variable R.Msp1 fragmentation in genomic DNA due to DNA hypomethylation in CRF patients with MTHFR C677Tgene polymorphism: from genetics to epigenetics
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Variable R.Msp1 fragmentation in genomic DNA due to DNA hypomethylation in CRF patients with MTHFR C677Tgene polymorphism: from genetics to epigenetics

机译：具有MTHFR C677T基因多态性的CRF患者中的DNA低甲基化导致基因组DNA中可变的R.Msp1片段化：从遗传学到表观遗传学

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The role of inflammation, hyperhomocysteinemia, germ-line genetic markers and epimutationshaven?t been understood completely in chronic renal failure (CRF). DNA methylation is a post- replicative modification mechanism that is strongly involved in the physiological control of epimutations and gene expression. In the current study it was aimed to find out the possible role of epigenetic alterations in renal failure due to functional MTHFR deficiency in CRF patients requiring long-term haemodialysis. Current cohort includes 228 CRF patients and 212 healthy individuals from same ethnicity. The MTHFR C677T SNP analysis was genotyped by real-time PCR analysis. Genomic DNA fragmentation sizes were correlated for wild, heterozygous and homozygous mutated CRF patients after methyl marker cognate enzyme of R.Msp1 digestion. The digested DNA fragmentation profiles were also compared by Scion Image histogram plot analysis. Increased T allele frequency was detected in CRF patients, the MTHFR 677TT genotype was found 6.1% and the T allele frequency 2.53-fold increased in CRF when compared with healthy individuals. Distinct global DNA methyl patterns that showed variable R.Msp1 fragmentations were also detected in current MTHFR gene mutated CRF patients. The current results indicate that individuals with germ-line MTHFR C677T mutations have a risk for CRF pathogenesis due to the reduced enzyme activity and global DNA hypomethylation that alters the allelic expression of distinct systemic genes. Results needs to be confirmed by a larger scale of sample size.
机译：在慢性肾功能衰竭（CRF）中，炎症，高同型半胱氨酸血症，种系遗传标记和表位突变的作用已被完全了解。 DNA甲基化是复制后的修饰机制，它与表观突变和基因表达的生理控制密切相关。在当前的研究中，目的是寻找在需要长期血液透析的CRF患者中，由于功能性MTHFR缺乏而引起的表观遗传学改变在肾衰竭中的可能作用。目前的队列包括228名CRF患者和212名来自相同种族的健康个体。通过实时PCR分析对MTHFR C677T SNP分析进行基因分型。 R.Msp1消化的甲基标记关联酶后，野生，杂合和纯合突变的CRF患者的基因组DNA片段大小相关。还通过Scion Image直方图分析比较了消化的DNA片段。与健康个体相比，CRF患者中检测到的T等位基因频率增加，发现MTHFR 677TT基因型为6.1％，CRF中的T等位基因频率增加了2.53倍。在当前的MTHFR基因突变的CRF患者中也发现了显示出可变的R.Msp1片段的独特的全球DNA甲基模式。目前的结果表明，具有种系MTHFR C677T突变的个体由于降低了酶活性和改变了不同系统基因的等位基因表达的整体DNA低甲基化而具有CRF发病风险。需要通过更大规模的样本量来确认结果。

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