Román Gustavo C
J Alzheimers Dis. 2015;47(2):323-7. doi: 10.3233/JAD-150304.
Recent epigenome-wide association studies have confirmed the importance of epigenetic effects mediated by DNA methylation in late-onset Alzheimer's disease (LOAD). Metabolic folate pathways and methyl donor reactions facilitated by B-group vitamins may be critical in the pathogenesis of LOAD. Methylenetetrahydrofolate reductase (MTHFR) gene mutations were studied in consecutive Alzheimer's Disease & Memory Clinic patients up to December 2014. DNA analyses of MTHFR-C667T and - A1298C homozygous and heterozygous polymorphisms in 93 consecutive elderly patients revealed high prevalence of MTHFR mutations (92.5%). Findings require confirmation in a larger series, but MTHFR mutations may become a LOAD marker, opening novel possibilities for prevention and treatment.
近期的全表观基因组关联研究证实了DNA甲基化介导的表观遗传效应在晚发性阿尔茨海默病（LOAD）中的重要性。由B族维生素促进的代谢叶酸途径和甲基供体反应可能在LOAD的发病机制中起关键作用。截至2014年12月，对连续就诊于阿尔茨海默病与记忆诊所的患者进行了亚甲基四氢叶酸还原酶（MTHFR）基因突变研究。对93例连续老年患者的MTHFR - C667T和 - A1298C纯合及杂合多态性进行DNA分析，结果显示MTHFR突变的发生率很高（92.5%）。这些发现需要在更大规模的研究中得到证实，但MTHFR突变可能成为LOAD的一个标志物，为预防和治疗开辟新的可能性。
