Abstract

Mitochondrial diseases are a group of common inherited diseases causing disruption of oxidative phosphorylation. Some patients with mitochondrial disease have endocrine manifestations, with diabetes being predominant but also include hypogonadism, hypoadrenalism and hypoparathyroidism. There have been major developments in mitochondrial disease over the last decade that have major implications for all patients. The collection of large cohorts of patients has better defined the phenotype of mitochondrial diseases and the majority of patients with endocrine abnormalities have involvement of several other systems. This means that patients with mitochondrial disease and endocrine manifestations need specialist follow up because some of the other manifestations, such as stroke-like episodes and cardiomyopathy, are potentially life threatening. Also, the development and follow up of large cohorts of patients means that there are clinical guidelines for the management of patients with mitochondrial disease. There is also considerable research activity to identify novel therapies for the treatment of mitochondrial disease. The revolution in genetics, with the introduction of next generation sequencing, has made genetic testing more available and establishing a precise genetic diagnosis is important since it will affect the risk for involvement for different organ systems. Establishing a genetic diagnosis is also crucial since there are important reproductive options have been developed which will prevent the transmission of mitochondrial disease due to mitochondrial DNA variants to the next generation.

中文翻译：

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线粒体病的内分泌表现及新进展

摘要

线粒体疾病是一组导致氧化磷酸化破坏的常见遗传性疾病。一些线粒体病患者有内分泌表现，以糖尿病为主，但也包括性腺功能减退、肾上腺功能减退和甲状旁腺功能减退。在过去十年中，线粒体疾病取得了重大进展，对所有患者都有重大影响。大量患者队列的收集更好地定义了线粒体疾病的表型，并且大多数内分泌异常患者都涉及其他几个系统。这意味着患有线粒体疾病和内分泌表现的患者需要专科医生随访，因为其他一些表现，如中风样发作和心肌病，可能危及生命。还，大量患者的发展和随访意味着有线粒体疾病患者管理的临床指南。还有相当多的研究活动来确定治疗线粒体疾病的新疗法。随着下一代测序的引入，遗传学的革命使基因检测变得更加容易，建立精确的基因诊断非常重要，因为它将影响不同器官系统受累的风险。建立基因诊断也很重要，因为已经开发了重要的生殖选择，这将防止由于线粒体 DNA 变异而导致的线粒体疾病传播给下一代。