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线粒体疾病是由基因突变导致电子传递链损伤而引起的疾病,其诊断需要结合临床与实验多方面综合评估,包括实验室检查、影像学检查、病理组织检查、生物化学检测及基因检测。目前为止,对线粒体疾病的治疗仅限于症状的缓解和对可治疗症状的治疗,例如癫痫,心脏疾病以及糖尿病的早期发现,包括饮食疗法、抗氧化剂治疗、对症治疗、药物治疗及基因治疗。近年来,线粒体置换技术越来越受到关注,该技术包括卵胞质移植(OT)、原核移植(PNT)、中期染色体移植(CT)、生发泡移植(GVTl技术以及极体移植(PBT)等。
Mitochondrial diseases are diseases caused by DNA damage caused by gene mutation. The diagnosis needs to be combined with various clinical and laboratory tests, including laboratory tests, imaging tests, histopathological tests, biochemical tests and genetic tests. To date, the treatment of mitochondrial diseases has been limited to symptomatic relief and the treatment of treatable conditions such as epilepsy, heart disease and early detection of diabetes including diet therapy, anti-oxidant therapy, symptomatic treatment, medical treatment and gene therapy. In recent years, mitochondrial replacement technology is gaining more and more attention. The technologies include oocyte transplantation (OT), prokaryotic (PNT), metaphase chromosome transfer (CT), germinal vesicle transplantation (GVTl) and polar body transplantation (PBT).