Shoffner J M
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.
Lancet. 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6.
Mitochondrial DNA is more susceptible than nuclear DNA to mutations. Mitochondrial mutations have been associated with a range of disorders, some of which can be inherited maternally as well as by mendelian patterns. The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns-Sayre syndrome, for example, can include cardiac abnormalities, diabetes mellitus, cerebellar ataxia, and deafness. An understanding of the genetic and biochemical basis of these disorders will help in the adoption of a systematic approach to their diagnosis and to patient management.
线粒体DNA比核DNA更容易发生突变。线粒体突变与一系列疾病有关，其中一些疾病既可以通过母系遗传，也可以通过孟德尔遗传模式遗传。氧化磷酸化疾病就是这类具有复杂表型的疾病；例如，卡恩斯-塞尔综合征可能包括心脏异常、糖尿病、小脑共济失调和耳聋。了解这些疾病的遗传和生化基础将有助于采用系统的方法对其进行诊断和患者管理。
