线粒体DNA缺失与神经肌肉性疾病的研究

Mitochondrial DNA Deletion Associated with Neuromuscular Diseases

应用 PCR 技术对13例神经肌肉疾病患者的线粒体 DNA 缺失进行了研究。结果表明,其中二例肢带型肌营养不良症患者的骨骼肌组织和一例帕金森氏病患者的血细胞线粒体 DNA 中存在至少526bp的缺失.提示线粒体突变在一些神经肌肉性疾病的发生中起一定的作片用.

Using PCR technique,we analysed the skeletal muscle and blood of 13 patients with neuromuscular diseases.The results show that a mutant mitochondrial DNA with at least 526 bp deletion exits in the skeletal muscles of 2 patients with Erb muscular dystrophy and in the blood of a patients with Parkinson's disease.From our results,mitochondrial .DNA mutations could be an important contributory factor to neuromuscular diseases.