Vogel H
Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA.
J Neuropathol Exp Neurol. 2001 Mar;60(3):217-27. doi: 10.1093/jnen/60.3.217.
Mitochondrial encephalomyopathies are under increasing consideration in the differential diagnosis of diverse metabolic diseases from infancy to late adulthood. This is to be expected considering the vital importance of mitochondria to cellular respiration in all eukaryotes. the vulnerability of the mitochondrial genome to injury, and the expanding appreciation of the role of mitochondria as a common denominator in cell death in ischemia/anoxia, sepsis, and neurodegenerative diseases. Primary disease of the mitochondrial respiratory chain is estimated to occur with an incidence of between 6 and 16/100,000 individuals. Virtually all tissues have been shown to be involved in diverse mitochondriopathies, but none is more appropriate for diagnosis in most cases than skeletal muscle. The conventional histological and ultrastructural diagnosis of mitochondrial disease in muscle has been increasingly supplanted by the biochemical assessment of respiratory chain enzyme deficiencies and definitive genetic diagnosis. The use of such techniques has afforded a greater understanding for the relative lack of specificity of both light and electron microscopic observations. A review of the current situation by placing muscle pathology in the context of biochemical and genetic diagnosis serves as a paradigm for the role of the pathologist in the molecular era.
线粒体脑肌病在从婴儿期到成年晚期的各种代谢性疾病鉴别诊断中受到越来越多的关注。考虑到线粒体对所有真核生物细胞呼吸的至关重要性、线粒体基因组易受损伤以及线粒体在缺血/缺氧、脓毒症和神经退行性疾病中作为细胞死亡共同因素的作用日益受到重视，出现这种情况是可以预期的。线粒体呼吸链原发性疾病的估计发病率为每10万人中有6至16例。几乎所有组织都已被证明参与各种线粒体病，但在大多数情况下，没有比骨骼肌更适合用于诊断的组织了。肌肉中线粒体疾病的传统组织学和超微结构诊断已越来越多地被呼吸链酶缺陷的生化评估和确定性基因诊断所取代。这些技术的应用使人们对光镜和电镜观察相对缺乏特异性有了更深入的了解。通过将肌肉病理学置于生化和基因诊断的背景下对当前情况进行综述，为病理学家在分子时代的作用提供了一个范例。
