Mitochondrial diseases
Mitochondrial diseases
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DOI：
10.1016/s0140-6736(11)61305-6
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发表时间：
2012-05-12
期刊：
影响因子：
168.9
通讯作者：
Schapira, Anthony H. V.
中科院分区：
文献类型：
--
作者：
Schapira, Anthony H. V.
线粒体在细胞生物能量学和细胞凋亡中具有关键作用，因此对于支持细胞功能和确定细胞死亡途径是重要的。遗传性线粒体疾病可由线粒体DNA或编码线粒体蛋白的核基因的突变引起。虽然许多线粒体疾病是多系统性的，但有些是组织特异性的，如视神经病变、感觉神经性耳聋和2型糖尿病。在过去的几年中，几种疾病已经与负责线粒体DNA维持和功能的核基因突变相关，并且线粒体异常对进行性神经退行性疾病如帕金森病和阿尔茨海默病的潜在贡献已经被认识到。线粒体的分裂-融合过程已成为人类疾病研究的热点。更重要的是，该基因现在是治疗干预的目标，包括小分子、转录调控和遗传操作，为治疗各种疾病提供了机会。
Mitochondria have a crucial role in cellular bioenergetics and apoptosis, and thus are important to support cell function and in determination of cell death pathways. Inherited mitochondrial diseases can be caused by mutations of mitochondrial DNA or of nuclear genes that encode mitochondrial proteins. Although many mitochondrial disorders are multisystemic, some are tissue specific-eg, optic neuropathy, sensorineural deafness, and type 2 diabetes mellitus. In the past few years, several disorders have been associated with mutations of nuclear genes responsible for mitochondrial DNA maintenance and function, and the potential contribution of mitochondrial abnormalities to progressive neurodegenerative diseases such as Parkinson's disease and Alzheimer's disease has been recognised. The process of mitochondrial fission-fusion has become a focus of attention in human disease. Importantly, the mitochondrion is now a target for therapeutic interventions that encompass small molecules, transcriptional regulation, and genetic manipulation, offering opportunities to treat a diverse range of diseases.