Mitochondrial diseases: from molecular mechanisms to therapeutic advances
Central South University · Second Xiangya Hospital of Central South University · +2 more institutions
Abstract
Mitochondria are essential for cellular function and viability, serving as central hubs of metabolism and signaling. They possess various metabolic and quality control mechanisms crucial for maintaining normal cellular activities. Mitochondrial genetic disorders can arise from a wide range of mutations in either mitochondrial or nuclear DNA, which encode mitochondrial proteins or other contents. These genetic defects can lead to a breakdown of mitochondrial function and metabolism, such as the collapse of oxidative phosphorylation, one of the mitochondria's most critical functions. Mitochondrial diseases, a common group of genetic disorders, are characterized by significant phenotypic and genetic…
Citation impact
- FWCI
- 94.28
- Percentile
- 100%
- References
- 919
Authors
8- HWHu WenCorresponding
Central South University, Second Xiangya Hospital of Central South University
- HDHui Deng
Central South University, Hunan Provincial Center for Disease Control and Prevention, Second Xiangya Hospital of Central South University
- BLBingyan Li
Central South University, Hunan Provincial Center for Disease Control and Prevention, Second Xiangya Hospital of Central South University
- JCJunyu Chen
Central South University, Hunan Provincial Center for Disease Control and Prevention, Second Xiangya Hospital of Central South University
- JZJunye Zhu
Central South University, Hunan Provincial Center for Disease Control and Prevention, Second Xiangya Hospital of Central South University
Topics & keywords
- Mitochondrion
- Mitochondrial DNA
- Biology
- Phenotype
- Mitochondrial disease
- mitochondrial fusion
- Oxidative phosphorylation
- Mechanism (biology)