Bonilla E, Sciacco M, Tanji K, Sparaco M, Petruzzella V, Moraes C T
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032.
Brain Pathol. 1992 Apr;2(2):113-9. doi: 10.1111/j.1750-3639.1992.tb00679.x.
Molecular genetics, biochemistry, immunology and morphology, are being applied in a coordinated fashion to unveil the molecular basis of the mitochondrial encephalomyopathies. Mutations of mitochondrial DNA (mtDNA) have been found in well characterized clinical groups of these disorders. New and old morphologic methods have been applied to investigate muscle biopsies from patients with mtDNA mutations. Important observations have been made on the cellular localization of normal and mutated mtDNA and on the expression of mtDNA-encoded polypeptides. These observations have provided insight into the pathogenesis of respiratory chain enzyme deficiency at the level of individual muscle fibers. Application of immunocytochemical and in situ hybridization techniques at the electron microscopic level will extend these studies to the level of individual mitochondria.
分子遗传学、生物化学、免疫学和形态学正以协同的方式应用于揭示线粒体脑肌病的分子基础。在这些疾病特征明确的临床组中已发现线粒体DNA（mtDNA）突变。新的和旧的形态学方法已被应用于研究mtDNA突变患者的肌肉活检标本。已对正常和突变mtDNA的细胞定位以及mtDNA编码多肽的表达进行了重要观察。这些观察为在单个肌纤维水平上呼吸链酶缺乏的发病机制提供了见解。在电子显微镜水平应用免疫细胞化学和原位杂交技术将把这些研究扩展到单个线粒体水平。
