线粒体疾病：临床与遗传特征

Mitochondrial disorders: clinical and genetic features.

作者信息

Simon D K, Johns D R

机构信息

Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02115, USA.

出版信息

Annu Rev Med. 1999;50:111-27. doi: 10.1146/annurev.med.50.1.111.

DOI:10.1146/annurev.med.50.1.111

PMID:10073267

Abstract

Virtually all cells in humans depend on mitochondrial oxidative phosphorylation to generate energy, accounting for the remarkable diversity of clinical disorders associated with mitochondrial DNA mutations. However, certain tissues are particularly susceptible to mitochondrial dysfunction, resulting in recognizable clinical syndromes. Mitochondrial DNA mutations have been linked to seizures, strokes, optic atrophy, neuropathy, myopathy, cardiomyopathy, sensorineural hearing loss, diabetes mellitus, and other clinical features. Mitochondrial DNA mutations also may play an important role in aging, as well as in common age-related neurodegenerative disorders such as Parkinson's disease. Therefore, it is becoming increasingly important for clinicians to recognize the clinical syndromes suggestive of a mitochondrial disorder, and to understand the unique features of mitochondrial genetics that complicate diagnosis and genetic counseling.

摘要

实际上，人类几乎所有细胞都依赖线粒体氧化磷酸化来产生能量，这就解释了与线粒体DNA突变相关的临床疾病的显著多样性。然而，某些组织对线粒体功能障碍特别敏感，从而导致可识别的临床综合征。线粒体DNA突变与癫痫、中风、视神经萎缩、神经病变、肌病、心肌病、感音神经性听力损失、糖尿病及其他临床特征有关。线粒体DNA突变在衰老过程以及诸如帕金森病等常见的与年龄相关的神经退行性疾病中也可能起重要作用。因此，临床医生认识提示线粒体疾病的临床综合征，并了解使诊断和遗传咨询复杂化的线粒体遗传学独特特征变得越来越重要。