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

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)323-327
Number of pages5
JournalJournal of Alzheimer's Disease
Issue number2
StatePublished - Jul 24 2015


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

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Psychology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health


Dive into the research topics of 'MTHFR gene mutations: A potential marker of late-onset Alzheimer's disease?'. Together they form a unique fingerprint.

Cite this