Marin-Garcia J, Hu Y, Ananthakrishnan R, Pierpont M E, Pierpont G L, Goldenthal M J
Molecular Cardiology Institute, Highland Park, NJ 08904, USA.
Biochem Mol Biol Int. 1996 Oct;40(3):487-95. doi: 10.1080/15216549600201053.
We report a high incidence of reduced respiratory Complex III activity in heart muscle concomitant with the presence of a specific mutation in cytochrome b (cytb) in patients with ischemic cardiomyopathy. This C-->A mutation at nt 15452 converts the 236th residue of cytb from a leucine to isoleucine, is heteroplasmic and was observed in only 2 of 43 controls. Complex III activity is reduced (> 50%) in 5 of 6 patients with the C-->A15452 mutation suggesting that the cytb mutation is responsible for decreased Complex III activity and may play a role in the pathophysiology of ischemic cardiomyopathy.
我们报告了缺血性心肌病患者心肌中呼吸链复合体III活性降低的高发生率，同时伴有细胞色素b（cytb）的特定突变。该nt 15452位点的C→A突变使cytb的第236位残基由亮氨酸变为异亮氨酸，呈异质性，在43名对照中仅2例观察到。6例携带C→A15452突变的患者中有5例复合体III活性降低（>50%），提示cytb突变导致复合体III活性降低，可能在缺血性心肌病的病理生理学中起作用。
