Evaluation of the MTHFR A1298C variant in leukoaraiosis
| Autor: | Istvan Szaniszlo, Erika Nedo, Krisztina Hitri, Zoltán Szolnoki, Andras Kondacs, Márta Szekeres, Ferenc Somogyvári, Yvette Mándi |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Homocysteine Hyperhomocysteinemia Bioinformatics White matter Cellular and Molecular Neuroscience chemistry.chemical_compound Risk Factors Medicine Humans Point Mutation Neurochemistry Genetic Predisposition to Disease Cognitive decline Risk factor Pathological Methylenetetrahydrofolate Reductase (NADPH2) Aged Genetics biology business.industry Genetic Carrier Screening Leukoaraiosis Genetic Variation General Medicine Middle Aged medicine.anatomical_structure chemistry Methylenetetrahydrofolate reductase Multigene Family biology.protein Female business |
| Zdroj: | Journal of molecular neuroscience : MN. 46(3) |
| ISSN: | 1559-1166 |
| Popis: | Vascular demyelinization of the white matter of the brain is referred to as leukoaraiosis (LA). This very frequent entity is associated with a cognitive decline, thereby resulting in a deteriorating quality of life. Besides poorly controlled hypertension and aging, its development is reported to be associated with an elevated serum homocysteine level. Although the methylenetetrahydrofolate reductase (MTHFR) C677T genetic variant is associated with an elevated serum homocysteine level, it has not been proved to be an independent risk factor for LA. The aim of the present study was to examine whether the MTHFR A1298C genetic variant, which is also believed to be unfavorable, is associated with the presence of LA. The clinical and genetic data on 198 LA patients and 235 neuroimaging alteration-free controls were analyzed. The presence of the A1298C or the 1298CC variant was calculated to be a risk factor for LA, as compared with the absence of both of them. The clustering of the heterozygous A1298C and C677T variants was proved to involve the risk of LA. Our results suggest that the MTHFR A1298C variant confers an independent genetic risk of LA, and this pathological role may be amplified by the MTHFR C677T variant. |
| Databáze: | OpenAIRE |
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