Affiliations: Houston Methodist Hospital Neurological Institute, Houston, Texas and Weill Cornell Medical College, Cornell University, New York, NY, USA
Correspondence:
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Correspondence to: Prof. Gustavo C. Román, The Jack S. Blanton Presidential Distinguished Endowed Chair, Department of Neurology, Methodist Neurological Institute, 6560 Fannin Street, Suite 802, Houston, Texas, 77030, USA. Tel.: +1 713 441 1150; Fax: +1 713 790 4990; [email protected]
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.
Keywords: Alzheimer’s disease, DNA methylation, epigenetics, MTHFR gene, vitamins B-group
