Rozen R
Department of Human Genetics, McGill University-Montreal Children's Hospital, Quebec, Canada.
J Inherit Metab Dis. 1996;19(5):589-94. doi: 10.1007/BF01799831.
In severe MTHFR deficiency with neonatal or adolescent onset, 9 rare mutations have been identified. In mild MTHFR deficiency with thermolabile enzyme, a single common mutation (an alanine-to-valine substitution) is involved, but a genetic-nutrient interactive effect is required to produce mild hyperhomocysteinaemia. This interactive effect has been proposed to be a risk factor for arteriosclerosis and for neural-tube defects. Large-scale studies are required for confirmation of the role of MTHFR in these multifactorial processes as well as to assess its role in other folate-dependent disorders.
在新生儿期或青春期发病的严重亚甲基四氢叶酸还原酶（MTHFR）缺乏症中，已鉴定出9种罕见突变。在伴有热不稳定酶的轻度MTHFR缺乏症中，涉及一种单一的常见突变（丙氨酸到缬氨酸的替代），但需要遗传-营养相互作用效应才能产生轻度高同型半胱氨酸血症。这种相互作用效应已被认为是动脉粥样硬化和神经管缺陷的危险因素。需要进行大规模研究以证实MTHFR在这些多因素过程中的作用，并评估其在其他叶酸依赖性疾病中的作用。
