The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease

The methylenetetrahydrofolate reductase (MTHFR) gene has been recently cons idered as a candidate gene for Alzheimer's disease (AD). MTHFR is a key enz yme in the metabolism of homocysteine and elevated levels of that amino aci d have been associated to Vascular Dementia and AD. AT --> C transition at codon 677 produces a thermolabile type of the enzyme. However, contrasting results on the distribution of the MTHFR C677T common polymorphism in AD ha ve been published. We analyzed the distribution of the MTHFR and apolipopro tein E (APOE) polymorphisms in Italian patients with sporadic AD. The distr ibution of the C677T polymorphism did not differ in AD and controls. Our da ta suggest that the MTHFR polymorphism does not contribute to genetic susce ptibility in Italian sporadic AD and does not mitigate the effect of ApoE e psilon4 allele on AD risk. (C) 2001 Elsevier Science Ireland Ltd. All right s reserved.