神经肌肉性疾病患者线粒体DNA的缺失

Deletion of Mitochondrial DNA in Patients with Neuromuscular Disease

目的：证实神经肌肉性疾病与线粒体ＤＮＡ缺失有关。方法：应用ＰＣＲ技术研究了９例神经肌肉性疾病患者的血细胞或（和）肌肉组织中的线粒体ＤＮＡ，共１５份标本。结果：１例线粒体脑肌病患者ｍｔＤＮＡ中存在至少２９６８ｂｐ的大片断缺失，缺失区位于呼吸链复合物１，４，５的编码区。结论：该ｍｔＤＮＡ突变可能导致神经肌肉性疾病。

Objective:To verify the relationship between neuromuscular disease and the mutation of mitochondrial DNA.Method:Polymerase chain reaction(PCR) was used to investigate the mitochondrial DNA in 15 specimens from skeletal muscle and(or) blood cells of 9 patients with neuromuscular disease.Result:The blood mitochondrial was found in a patient with mitochondrial emphalomyopathy.There exists a deletion of at least 2968bp which partially lies in the encode region of respiration chain complex 1,4,5.Conclusion:The neuromuscular disease is associated with the mutation abovementioned.