Fadic R, Johns D R
Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
Semin Neurol. 1996 Mar;16(1):11-20. doi: 10.1055/s-2008-1040954.
Mitochondrial diseases include myopathies and multisystem disorders. They are characterized by morphologic and biochemical abnormalities of mitochondria. Their genetic characteristics-maternal inheritance, heteroplasmy, mitotic segregation, and threshold effect-are unique. The clinical phenotypes are considerably heterogeneous, but the clinical presentation in many cases is characteristic or suggestive. We review the clinical features of the most prevalent mitochondrial encephalomyopathy syndromes, their molecular genetic basis, isolated clinical symptoms, and uncommon presentations. Molecular genetic diagnosis is available for the common syndromes and has revolutionized their diagnosis. Future therapeutic advances, based on the precise genetic etiology, are anticipated. Mitochondrial dysfunction may be a more frequent pathogenetic mechanism than the prevalence of the classic mitochondrial syndromes would indicate, as there is an association between the accumulation of mitochondrial DNA mutations in postmitotic tissues and neurologic and systemic degenerative diseases.
线粒体疾病包括肌病和多系统疾病。它们的特征是线粒体的形态和生化异常。其遗传特征——母系遗传、异质性、有丝分裂分离和阈值效应——是独特的。临床表型具有相当大的异质性，但在许多情况下临床表现具有特征性或提示性。我们综述了最常见的线粒体脑肌病综合征的临床特征、分子遗传学基础、孤立的临床症状和罕见表现。常见综合征可进行分子遗传学诊断，这彻底改变了它们的诊断方式。基于精确的遗传病因，预计未来治疗会取得进展。线粒体功能障碍可能是一种比经典线粒体综合征患病率所表明的更为常见的致病机制，因为有丝分裂后组织中线粒体DNA突变的积累与神经和全身退行性疾病之间存在关联。
