Graff C, Clayton D A, Larsson N G
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
J Intern Med. 1999 Jul;246(1):11-23. doi: 10.1046/j.1365-2796.1999.00514.x.
Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the main part of cellular energy in the form of ATP. Mitochondrial DNA (mtDNA) encodes essential subunits of the respiratory chain and is thus critical for maintaining cellular energy production. The first pathogenic mtDNA mutations were reported in 1988, and today more than 50 disease-causing mtDNA mutations have been identified. In addition, mtDNA mutations have been implicated in ageing and in common disorders such as diabetes mellitus, heart failure and Parkinson's disease. This review will summarize recent advances in the rapidly expanding field of mitochondrial medicine.
线粒体含有进行氧化磷酸化的呼吸链酶复合物，并以ATP的形式产生细胞能量的主要部分。线粒体DNA（mtDNA）编码呼吸链的必需亚基，因此对于维持细胞能量产生至关重要。1988年首次报道了致病性mtDNA突变，如今已鉴定出50多种致病mtDNA突变。此外，mtDNA突变与衰老以及糖尿病、心力衰竭和帕金森病等常见疾病有关。本综述将总结线粒体医学快速发展领域的最新进展。
