Zolkipli-Cunningham Zarazuela, Falk Marni J
Division of Neurology, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104, United States; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States.
Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, United Staes.
Toxicology. 2017 Nov 1;391:90-99. doi: 10.1016/j.tox.2017.07.009. Epub 2017 Jul 27.
Mitochondria are critical for the provision of ATP for cellular energy requirements. Tissue and organ functions are dependent on adequate ATP production, especially when energy demand is high. Mitochondria also play a role in a vast array of important biochemical pathways including apoptosis, generation and detoxification of reactive oxygen species, intracellular calcium regulation, steroid hormone and heme synthesis, and lipid metabolism. The complexity of mitochondrial structure and function facilitates its diverse roles but also enhances its vulnerability. Primary disorders of mitochondrial bioenergetics, or Primary Mitochondrial Diseases (PMD) are due to inherited genetic defects in the nuclear or mitochondrial genomes that result in defective oxidative phosphorylation capacity and cellular energy production. Secondary mitochondrial dysfunction is observed in a wide range of diseases such as Alzheimer's and Parkinson's disease. Several lines of evidence suggest that environmental exposures cause substantial mitochondrial dysfunction. Whereby literature from experimental and human studies on exposures associated with Alzheimer's and Parkinson's diseases exist, the significance of exposures as potential triggers in Primary Mitochondrial Disease (PMD) is an emerging clinical question that has not been systematically studied.
线粒体对于为细胞能量需求提供ATP至关重要。组织和器官功能依赖于充足的ATP产生,尤其是在能量需求很高时。线粒体还在大量重要的生化途径中发挥作用,包括细胞凋亡、活性氧的产生和解毒、细胞内钙调节、类固醇激素和血红素合成以及脂质代谢。线粒体结构和功能的复杂性促进了其多种作用,但也增加了其脆弱性。线粒体生物能量学的原发性疾病,即原发性线粒体疾病(PMD),是由于核基因组或线粒体基因组中的遗传缺陷导致氧化磷酸化能力和细胞能量产生受损。在广泛的疾病如阿尔茨海默病和帕金森病中观察到继发性线粒体功能障碍。有几条证据表明环境暴露会导致严重的线粒体功能障碍。虽然存在关于与阿尔茨海默病和帕金森病相关暴露的实验和人体研究文献,但暴露作为原发性线粒体疾病(PMD)潜在触发因素的重要性是一个尚未得到系统研究的新出现的临床问题。