Egger J, Wilson J
N Engl J Med. 1983 Jul 21;309(3):142-6. doi: 10.1056/NEJM198307213090304.
Mendelian inheritance involves the transmission to successive generations of DNA contained in genes in the nucleus, but DNA is also contained in mitochondria, where it is believed to be responsible for the encoding of certain mitochondrial enzymes. Since nearly all mitochondrial DNA is maternally transmitted, one might expect a nonmendelian pattern of inheritance in mitochondrial cytopathy, a syndrome in which there are abnormalities in mitochondrial structure and deficiencies in a variety of mitochondrial enzymes. We studied the pedigrees of 6 affected families whose members we had examined personally and of 24 families described in the literature. In 27 families, exclusively maternal transmission occurred; in 3 there was also paternal transmission in one generation. Altogether, 51 mothers but only 3 fathers had transmitted the condition. These results are consistent with mitochondrial transmission of mitochondrial cytopathy; the inheritance and enzyme defects of mitochondrial cytopathy can be considered in the light of recent evidence that subunits of respiratory-enzyme complexes are encoded solely by mitochondrial DNA. The occasional paternal transmission may be explained if certain enzyme subunits that are encoded by nuclear DNA are affected.
孟德尔遗传涉及细胞核中基因所含DNA向后代的传递，但DNA也存在于线粒体中，据信它负责某些线粒体酶的编码。由于几乎所有线粒体DNA都是通过母系遗传的，因此人们可能会预期线粒体细胞病存在非孟德尔遗传模式，线粒体细胞病是一种线粒体结构异常且多种线粒体酶缺乏的综合征。我们研究了6个受影响家庭的谱系，这些家庭的成员我们都亲自进行了检查，还研究了文献中描述的24个家庭的谱系。在27个家庭中，仅出现母系遗传；在3个家庭中，有一代也出现了父系遗传。总共有51位母亲但只有3位父亲传递了这种病症。这些结果与线粒体细胞病的线粒体遗传一致；鉴于最近的证据表明呼吸酶复合物的亚基仅由线粒体DNA编码，线粒体细胞病的遗传和酶缺陷可以得到解释。偶尔的父系遗传如果是由核DNA编码的某些酶亚基受到影响，或许可以得到解释。
