据美国佐治亚州亚特兰大Emory大学医学院生物化学教授,儿科与人类学副教授Douglas Wallace称,许多使人困惑的疾病(有些属罕见,有些常见)是由母亲遗传,无疑都与线粒体DNA(mtDNA)缺陷有关。 Wallace等发现,勒伯尔氏遗传性视神经病(LHON)是由DNA的点突变所致。在突变中,精氨酸转变为组氨酸,以致影响线粒体内通过氧化磷酸化合成ATP过程中在能量循环五个关键步骤中的呼吸酶复合物Ⅰ。患者通常在20岁左右,由于双侧视神经变性导致失明,同时,还可伴有心律失调。 Wallace说,因为视网膜神经细胞在体内属氧化作用最强的组织,对ATP的需求量最大,所以视神经受损是可能的。氧化磷酸化 According to Douglas Wallace, an associate professor of pediatrics and anthropology at the biochemistry professor at Emory University School of Medicine in Atlanta, Georgia, many confusing diseases (some rare and some common) are inherited by the mother, undoubtedly with mitochondrial DNA (mtDNA) defects. related. Wallace et al. found that Leber’s hereditary optic neuropathy (LHON) was caused by a point mutation in DNA. In the mutation, arginine is converted to histidine, so as to affect the respiratory enzyme complex I in the five key steps of the energy cycle during mitochondrial synthesis of ATP through oxidative phosphorylation. The patient is usually around 20 years old and is blind due to bilateral optic nerve degeneration. At the same time, it can also be accompanied by arrhythmia. Wallace said that since the retinal nerve cells are the most oxidized tissues in the body, the demand for ATP is greatest, so damage to the optic nerve is possible. Oxidative phosphorylation