Aims: hyperhomocysteinemia is an independent vascular risk factor. Little is known about the relationship between a point mutation (C677T) in the gene encoding MTI-IFR, a key enzyme in homocysteine metabolism, and early stages of atherosclerosis. Materials and Methods: we investigated the relationship between plasma homocysteine concentration (Hey), measured by HPLC, MTHFR mutation, evaluated by polymerase chain reaction followed by HinfI digestion, and carotid geometry in 120 healthy women aged 52-80 years with normal glucose tolerance after OGTT and normal albumin excretion rate. In all women we measured intima-media thickness (IMT), speed of systolic peak (SPS), end-diastolic speed (EDS) and resistance index of intracranial circulation (IR) by ultrasound high-resolution B-mode imaging. All data are expressed as mean±SE. Results: 22 women were homozygous for the mutation (Group A), 67 were heterozygous (Group B) and 31 were homozygous for the wild-type allele (Group C). The three groups were comparable for age, BMI, lipid pattern, presence of hypertension. Plasma Hey did not differ in the three groups (l0.3±1.6 vs l2.7±2.3 vs 10.05±1.3 fAl1l01l1, p~NS). Group A had significantly higher IMT respect to groups B and C (0.26±0.08 vs 0.14±0.01 and 0.16±0.02 mm, p~0.03), and higher EDS (27.7±1.8 vs 22.8±0.9 and 20.8±1.6 em/sec, p~0.02 vs Group C). No differences were observed in both SPS (76.9±5.6 in A, n.8±2.6 in B and 69.0±4.3 cm/sec in C) and IR (0.70±0.01 in A, 0.7±0.09 in B, 0.69±002 in C). In a multivariate regression analysis, age and IMT were independently associated with MTHFR mutation (p< 0.005). Conclusions: MTHFR homozygosis for C677T mutation is associated with some ultrasound parameters of asymptomatic carotid impairment. These observations suggest that MTHFR mutation could be a marker of early stages of atherosclerotic disease.

MTHFR mutation and subclinical carotid impairment in aging non diabetic women.

PASSARO, Angelina;ZULIANI, Giovanni;FELLIN, Renato;
1999

Abstract

Aims: hyperhomocysteinemia is an independent vascular risk factor. Little is known about the relationship between a point mutation (C677T) in the gene encoding MTI-IFR, a key enzyme in homocysteine metabolism, and early stages of atherosclerosis. Materials and Methods: we investigated the relationship between plasma homocysteine concentration (Hey), measured by HPLC, MTHFR mutation, evaluated by polymerase chain reaction followed by HinfI digestion, and carotid geometry in 120 healthy women aged 52-80 years with normal glucose tolerance after OGTT and normal albumin excretion rate. In all women we measured intima-media thickness (IMT), speed of systolic peak (SPS), end-diastolic speed (EDS) and resistance index of intracranial circulation (IR) by ultrasound high-resolution B-mode imaging. All data are expressed as mean±SE. Results: 22 women were homozygous for the mutation (Group A), 67 were heterozygous (Group B) and 31 were homozygous for the wild-type allele (Group C). The three groups were comparable for age, BMI, lipid pattern, presence of hypertension. Plasma Hey did not differ in the three groups (l0.3±1.6 vs l2.7±2.3 vs 10.05±1.3 fAl1l01l1, p~NS). Group A had significantly higher IMT respect to groups B and C (0.26±0.08 vs 0.14±0.01 and 0.16±0.02 mm, p~0.03), and higher EDS (27.7±1.8 vs 22.8±0.9 and 20.8±1.6 em/sec, p~0.02 vs Group C). No differences were observed in both SPS (76.9±5.6 in A, n.8±2.6 in B and 69.0±4.3 cm/sec in C) and IR (0.70±0.01 in A, 0.7±0.09 in B, 0.69±002 in C). In a multivariate regression analysis, age and IMT were independently associated with MTHFR mutation (p< 0.005). Conclusions: MTHFR homozygosis for C677T mutation is associated with some ultrasound parameters of asymptomatic carotid impairment. These observations suggest that MTHFR mutation could be a marker of early stages of atherosclerotic disease.
MTHFR gene, carotid wall thickness, aging, women.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11392/2367669
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