MTHFR Gene Mutations: A Potential Marker of Late-Onset Alzheimer's Disease?

Abstract

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.

• Authors: Gustavo C Román
• Journal: Journal of Alzheimer's disease : JAD (J Alzheimers Dis) Vol. 47 Issue 2 Pg. 323-7 ( 2015) ISSN: 1875-8908 [Electronic] Netherlands
• PMID: 26401555 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• MTHFR protein, human
• Methylenetetrahydrofolate Reductase (NADPH2)

Topics

• Age of Onset
• Aged
• Alzheimer Disease (diagnosis, epidemiology, genetics)
• Cohort Studies
• Female
• Genetic Predisposition to Disease
• Humans
• Male
• Methylenetetrahydrofolate Reductase (NADPH2) (genetics)
• Mutation
• Prevalence
• Prognosis