Mitochondrial diseases
Mitochondrial diseases
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DOI：
10.1038/nrdp.2016.80
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发表时间：
2016-10-20
影响因子：
81.5
通讯作者：
Turnbull, Douglass M.
中科院分区：
文献类型：
--
作者：
Gorman, Grainne S.;Chinnery, Patrick F.;Turnbull, Douglass M.
线粒体疾病是一组遗传性疾病，其特征在于氧化磷酸化缺陷，并且由编码线粒体结构蛋白或参与线粒体功能的蛋白的核DNA（nDNA）和线粒体DNA（mtDNA）中的基因突变引起。线粒体疾病是最常见的遗传性代谢紊乱，也是最常见的遗传性神经系统疾病。线粒体疾病的挑战之一是在患者中观察到的显著临床变异，这可能会延迟诊断。然而，下一代测序技术的进步大大改善了诊断，特别是在儿童中。建立遗传诊断允许线粒体疾病患者有生育选择，但这对于具有严格母系遗传的致病性mtDNA突变的女性更具挑战性。体外受精技术的最新进展，包括线粒体捐赠，将在未来为这些妇女提供更好的生殖选择。线粒体疾病患者的治疗仍然是一个挑战，但有指导方针可用于管理疾病的并发症。此外，正在考虑越来越多的治疗选择，随着大量患者和生物标志物的发展，一些临床试验正在进行中。
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function. Mitochondrial diseases are the most common group of inherited metabolic disorders and are among the most common forms of inherited neurological disorders. One of the challenges of mitochondrial diseases is the marked clinical variation seen in patients, which can delay diagnosis. However, advances in next-generation sequencing techniques have substantially improved diagnosis, particularly in children. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, but this is more challenging for women with pathogenetic mtDNA mutations that are strictly maternally inherited. Recent advances in in vitro fertilization techniques, including mitochondrial donation, will offer a better reproductive choice for these women in the future. The treatment of patients with mitochondrial diseases remains a challenge, but guidelines are available to manage the complications of disease. Moreover, an increasing number of therapeutic options are being considered, and with the development of large cohorts of patients and biomarkers, several clinical trials are in progress.