Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.
Lancet Neurol. 2010 Aug;9(8):829-40. doi: 10.1016/S1474-4422(10)70116-2.
Disruption of the most fundamental cellular energy process, the mitochondrial respiratory chain, results in a diverse and variable group of multisystem disorders known collectively as mitochondrial disease. The frequent involvement of the brain, nerves, and muscles, often in the same patient, places neurologists at the forefront of the interesting and challenging process of diagnosing and caring for these patients. Mitochondrial diseases are among the most frequently inherited neurological disorders, and can be caused by mutations in mitochondrial or nuclear DNA. Substantial progress has been made over the past decade in understanding the genetic basis of these disorders, with important implications for the general neurologist in terms of the diagnosis, investigation, and multidisciplinary management of these patients.
线粒体呼吸链这一最基本的细胞能量过程的破坏会导致一组不同且多变的多系统疾病，这些疾病统称为线粒体疾病。大脑、神经和肌肉经常同时受到影响，这使得神经科医生处于诊断和治疗这些患者这一有趣且具有挑战性过程的最前沿。线粒体疾病是最常见的遗传性神经疾病之一，可由线粒体或核 DNA 突变引起。在过去的十年中，人们在理解这些疾病的遗传基础方面取得了重大进展，这对一般神经科医生在这些患者的诊断、检查和多学科管理方面具有重要意义。
