MTHFR gene mutations: A potential marker of late-onset Alzheimer's disease? Academic Article uri icon


MeSH Major

  • Alzheimer Disease
  • Genetic Predisposition to Disease
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Mutation


  • © 2015 - IOS Press and the authors. All rights reserved. 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.

publication date

  • January 2015



  • Academic Article



  • eng

Digital Object Identifier (DOI)

  • 10.3233/JAD-150304

PubMed ID

  • 26401555

Additional Document Info

start page

  • 323

end page

  • 327


  • 47


  • 2