The 677C > T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice.

ABSTRACT: Vascular contributions to cognitive impairment and dementia (VCID) particularly Alzheimer's disease and related dementias (ADRDs) are increasing; however, mechanisms driving cerebrovascular decline are poorly understood. Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in the folate and methionine cycles. Variants in MTHFR, notably 677 C > T, are associated with dementias, but no mouse model existed to identify mechanisms by which MTHFR^677C > T increases risk. Therefore, MODEL-AD created a novel knock-in (KI) strain carrying the Mthfr^677C > T allele on the C57BL/6J background (Mthfr^677C > T) to characterize morphology and function perturbed by the variant. Consistent with human clinical data, Mthf

SUBMITTER: Reagan AM 

PROVIDER: S-EPMC9670012 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature