Ferrara Filippo, Novo Salvatore, Grimaudo Stefania, Raimondi Francesco, Meli Francesco, Amato Corrado, Amodeo Gabriella, Lo Presti Rosalia, Caimi Gregorio
Department of Internal Medicine, Cardiovascular and Nepro-Urogical Diseases Università di Palermo, Italy.
Clin Hemorheol Microcirc. 2006;34(3):421-6.
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.
本研究的目的是验证腹主动脉瘤（AAA）与亚甲基四氢叶酸还原酶（MTHFR）突变之间的关联，并探讨其与年龄的关系。我们研究了两组AAA患者（60岁及以上和60岁以下）中MTHFR 677T等位基因的频率。第一组AAA患者包括42例（30名男性和12名女性），年龄在65至75岁之间；第二组AAA患者包括46例（32名男性和14名女性），年龄在49至59岁之间；对照组包括44名健康对照者（29名男性和15名女性），年龄在49至75岁之间。我们使用核激光医学检测MTHFR等位基因频率和MTHFR基因型。与健康对照相比，60岁以上的AAA患者以及与60岁以上患者相比60岁以下的AAA患者中，MTHFR等位基因频率显著增加。基因型研究显示对照组与AAA患者之间以及60岁以上与60岁以下的AAA患者之间存在差异。与对照组相比，两个AAA组中MTHFR突变的频率均更高，但年轻患者中的频率高于老年患者。这种突变可能会导致主动脉壁早期弹性蛋白降解。
