Table_2_Leigh Syndrome: A Tale of Two Genomes.docx

Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity. The heterogeneous nature of this disorder, based in part on the complexity of mitochondrial genetics, and the significant interactions between the nuclear and mitochondrial genomes has made it particularly challenging to research and develop therapies. This review article discusses some of the advances that have been made in the field to date. While the prognosis is poor with no current substantial treatment options, multiple studies are underway to understand the etiology, pathogenesis, and pathophysiology of Leigh syndrome. With advances in available research tools leading to a better understanding of the mitochondria in health and disease, there is hope for novel treatment options in the future.

利氏综合征（Leigh syndrome）是一种罕见、复杂且无法治愈的早发性线粒体疾病，通常起病于婴幼儿期，兼具表型与遗传异质性。该疾病的异质性一方面源于线粒体遗传学的复杂性，另一方面与核基因组和线粒体基因组间的显著相互作用密切相关，这使得相关研究与治疗开发工作面临尤为严峻的挑战。本篇综述探讨了该领域迄今取得的部分研究进展。尽管目前预后不佳，且尚无切实有效的治疗方案，已有多项研究正致力于阐明利氏综合征的病因、发病机制与病理生理过程。随着现有研究工具的进步，人们对健康与疾病状态下线粒体的认知不断加深，未来有望出现全新的治疗选择。