Metabolic Unit,Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Mitochondrial Research Group,UCL Great Ormond Street Institute of Child Health, London, UK.
Arch Dis Child. 2017 Nov;102(11):1082-1090. doi: 10.1136/archdischild-2016-311370. Epub 2017 Jun 24.
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are critical for cellular health. Primary mitochondrial disorders are a group of greater than 200 single gene defects arising from two genomes (nuclear and mitochondrial) leading to mitochondrial dysfunction, and are associated with extremely heterogeneous phenotypes. Neuromuscular features predominate, but often with multisystem involvement. Clinical suspicion of a mitochondrial disorder should prompt multipronged investigation with biochemical and molecular genetic studies. Recent wide-scale adoption of next-generation sequencing approaches has led to a rapid increase in the number of disease genes. The advances in unravelling the genetic landscape of mitochondrial diseases have not yet been matched by progress in developing effective therapies, and the mainstay of care remains supportive therapies in a multidisciplinary team setting.
线粒体是几乎存在于所有人类细胞中的动态细胞器，对于多种细胞功能是必需的，包括能量产生、细胞凋亡的控制以及许多对细胞健康至关重要的生化分解和合成途径。原发性线粒体疾病是一组由两个基因组（核和线粒体）引起的超过 200 种单基因缺陷，导致线粒体功能障碍，并与极其异质的表型相关。神经肌肉特征占主导地位，但通常伴有多系统受累。对线粒体疾病的临床怀疑应促使进行多方面的生化和分子遗传学研究。新一代测序方法的广泛采用导致疾病基因数量迅速增加。在揭示线粒体疾病的遗传图谱方面取得的进展尚未与开发有效治疗方法的进展相匹配，护理的主要手段仍然是在多学科团队环境中进行支持性治疗。
