MTHFR Gene Mutations: A Potential Marker of Late-Onset Alzheimer%26apos;s Disease?

作者：Roman Gustavo C

来源：Journal of Alzheimer's Disease, 2015, 47(2): 323-327.

DOI：10.3233/JAD-150304

• Alzheimer's disease
• DNA methylation
• epigenetics
• MTHFR gene
• vitamins B-group

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.

• 出版日期2015