Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Abdominal aortic aneurysm (AAA) presents itself as a progressive dilation of the abdominal aorta, leading--if untreated--to rupture. It is a common disease of the elderly, with a complex etiology. Several genetic, biochemical and environmental factors are recognized as relevant for the pathogenesis of AAA. We determined the polymorphism of the MTHFR (methylenetetrahydrofolate reductase) gene within the fourth exon (C677T) in 63 patients with AAA and compared it to that in 75 subjects of the population sample. The frequencies of the C/C, C/T and T/T genotypes were 65%, 27%, and 8% in the population sample and 33%, 60%, and 6% in the patients. This corresponds to a 4.4-fold greater risk of AAA in subjects who have the 677C/T variant of MTHFR, as compared with those who are 677C/C (p < 0.0001; 95% CI=2.11-9.34). The frequency of allele MTHFR 677T in patients (0.37) was higher than in the population sample (0.21; p < 0.007). This association between the common allele of the MTHFR gene--MTHFR 677T--and the development of AAA suggests that elevated homocysteine (Hcy) may disturb the function of the aortic wall. The disturbance may involve enhancement of elastin degradation, the process enhanced by mild hyperhomocysteinemia in minipigs. The magnitude of this effect, which refers to the AAA patients unselected for familial occurrence, indicates that the disturbance of aortic wall physiology caused by the presence of the MTHFR 677T allele is greater than the effect of the earlier described allele disequilibrium at the polymorphic alleles of the PAI1 (plasminogen activator inhibitor 1) gene seen only in familial cases of AAA.
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PMID:Increased risk of the abdominal aortic aneurysm in carriers of the MTHFR 677T allele. 1259 Jan 85

The aim of the study was to verify the association between abdominal aortic aneurysms (AAA) and methylenetetrahydrofolate reductase (MTHFR) mutation, in relation to age. We studied the frequency of the MTHFR 677T allele in two groups of AAA patients, over and under 60 years. The first AAA group included 42 patients (30 men and 12 women) aged between 65 and 75 years; the second AAA group included 46 patients (32 men and 14 women) aged between 49 and 59 years; the control group included 44 healthy controls (29 men and 15 women) aged between 49 and 75 years. We examined MTHFR allele frequency and MTHFR genotype using Nuclear Laser Medicine. MTHFR allele frequency was significantly increased in AAA patients >60 compared to healthy controls and in AAA patients <60 compared to those >60. The genotype study showed a difference between controls and AAA patients and between AAA patients >60 and those <60. The frequency of MTHFR mutation was more elevated in both AAA groups vs controls, but it was more elevated in younger patients than in the older ones. This mutation might induce an early elastin degradation in the aortic wall.
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PMID:Methylenetetrahydrofolate reductase mutation in subjects with abdominal aortic aneurysm subdivided for age. 1661 66