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Alzheimer's Association International Conference 2026
July 12-15, 2026 | London, United Kingdom, and Online

11884
Mthfr C677t Polymorphism, Bbb Permeability And Perfusion In Amyloid-positive Older Adults Across The Preclinical And Prodromal Ad
Part of Topic
Basic Science and Pathogenesis -> Human Neuropathology -> Imaging-pathologic correlations
Abstract 2094
METHYLENETETRAHYDROFOLATE REDUCTASE GENE POLYMORPHISM EFFECT ON BBB PERMEABILITY AND PERFUSION IN PATIENTS WITH ALZHEIMER'S DISEASE
Type: Abstract Submission
Topic: Theme A: �-Amyloid Diseases / A01.m. Disease Mechanisms, Pathophysiology: Blood-brain barrier Authors: H.-J. KIM1, J. Park1, Y.-S. Moon2, W.-J. Moon3; 1Hanyang University, Neurology, Seoul, Korea, Republic of,
2Konkuk University, Neurology, Seoul, Korea, Republic of,3Konkik University, Radiology, Seoul, Korea, Republic of
Aims
The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and dementia with Alzheimer's disease (AD) has remained unclear. We examined the meaning of MTHFR C677T polymorphism in BBB permeability in in AD.
Methods
Prospective analysis of participants with AD diagnosed with amyloid PET for whom performed the MTHFR C677T genotype, MMSE, CDR and the structural neuroimaging was available. The Patlak model was used to calculate tissue permeability (Ktrans). It was analyzed the relation between the values below according to MTHFR C677T genotype and structural parameters (Ktrans, cerebral perfusion, and cortical thickness) . Effect of MTHFR C677T genotype was analyzed to find out Ktrans on cognitive functioning was evaluated with linear regression analysis adjusted for confounding factors. Independent t-test, Wilcoxon rank-sum test, Chi-square test, Fosher's exact test, ANCOVA, and Ranked ANCOVA were used in SAS version 9.4 (SAS Institute Inc., Cary, North Carolina, USA).
Results
Definite asymptomatic and prodromal AD patients of 41 met with NIA-AA research criteria, mean age 70.0 years, mean MMSE 27.2, and CDR 1.0. In the MCI group, it was confirmed that the flexibility of BBB permability decreases in the right temporal and cingulate occuring rate as the number of Tales increases, and the perfusion decreases in the temporal and the frontal cortex from the CC allele to the TT allele. ANCOVA analysis between MTHFR polymorphism and Ktrans in hippocampus showed trend for higher levels going from the CC allele to the TT allele (p value = 0.023). Any significant statistical relationship findings did not reveal between MTHFR polymorphism and structure (MTA, white matter lesions and microbleeds).
Conclusions
We found the MTHFR c.677(>T polymorphism was correlated with decrease perfusion in bilateral hippocampus, not permeability of BBB in preclinical and prodromal AD.
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