Morris M A
Institute of Medical Genetics, University Medical Centre, Geneva, Switzerland.
J Clin Neuroophthalmol. 1990 Sep;10(3):159-66.
Mutations in the genetic material of mitochondria have been described in patients with a range of neuro-ophthalmological and neuromuscular disorders. Many cases of Leber's hereditary optic neuropathy are caused by a single point mutation, for example, and Kearns-Sayre syndrome, chronic external ophthalmoplegia, and other mitochondrial cytopathies are frequently associated with large-scale deletions of mitochondrial genes. A knowledge of the role of the mitochondrial genome and of the precise nature of these mutations is important in understanding the etiology of such diseases and is already leading to more effective therapy.
线粒体遗传物质的突变已在一系列神经眼科和神经肌肉疾病患者中被描述。例如，许多Leber遗传性视神经病变病例是由单点突变引起的，而卡恩斯-塞尔综合征、慢性进行性眼外肌麻痹和其他线粒体细胞病常与线粒体基因的大规模缺失有关。了解线粒体基因组的作用以及这些突变的确切性质对于理解此类疾病的病因很重要，并且已经带来了更有效的治疗方法。
