线粒体脑病分子遗传学基础研究若干新进展

New advances of mitochondrial encephalopathy in basic research on molecular genetics

线粒体脑病是一组由各种原因引起的以线粒体氧化磷酸化功能受损为特征的遗传代谢性疾病。根据突变基因的来源不同,其遗传方式可分为母系遗传、常染色体或性染色体遗传。近年来,随着技术的发展以及对这些疾病的生化和分子基础知识认识的提高,神经学专家和医生对这些遗传病的早期诊断水平有了显著的提高。然而,由于对疾病基因层面认识的不足,大部分患者的致病基因仍无法明确,这为线粒体脑病的治疗带来了巨大的挑战。现以Alpers病、SNE病、Menke病、LHON病和MELAS病为例阐述线粒体脑病的最新研究进展。

Mitochondrial encephalopathy caused by various reasons is characterized by impaired mitochondrial oxidative phosphorylation of inherited metabolic diseases. Depending on the source of the mutated genes, the genetic models can be divided into matrilineal inheritance, autosomal or sex chromosomes genetic. Recent improvements in technology and expansion of knowledge on the biochemical and molecular basis of these disorders allow astute child neurologists and pediatricians to improve the early diagnosis of these genetically determined defects. However, due to insufficient cognize of molecular genetic aspects, most disease genes of the patients are still undefined, which is a huge challenge for therapy on the etiologies of mitochondrial encephalopathy. In this article, we expounded the latest progress of mitochondria encephalopathy through Alpers disease, SNE, Menke disease, LHON and MELAS.