期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 22, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/ijms22020586
关键词
ATP production; biogenesis of the respiratory chain; mitochondrial disease; mi-tochondrial electrochemical gradient; mitochondrial potential; mitochondrial proton pumping; mitochondrial respiratory chain; oxidative phosphorylation; respiratory complex; respiratory supercomplex
资金
- UK Medical Research Council [MC_UU_ 00015/5]
- European Research Council [FP7-322424]
- NRJ-Institut de France
- Fondazione Renato Comini ONLUS
- Telethon Italy [GGP19007]
- MRC [MC_UU_00015/5] Funding Source: UKRI
Mitochondria are intracellular organelles responsible for energy production in eukaryotic cells, with growing interest due to their association with various pathologies. Dysfunction of mitochondria can lead to a wide range of clinical phenotypes, particularly affecting tissues with high-energy demand. Mitochondrial diseases are genetically heterogeneous conditions, making it difficult to identify common causes and potential therapeutic targets.
Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production. The interest in this organelle has grown stronger with the discovery of their link to various pathologies, including cancer, aging and neurodegenerative diseases. Indeed, dysfunctional mitochondria cannot provide the required energy to tissues with a high-energy demand, such as heart, brain and muscles, leading to a large spectrum of clinical phenotypes. Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases, with an incidence of 1 in 5000 live births. Primary mitochondrial diseases are associated with genetic mutations both in nuclear and mitochondrial DNA (mtDNA), affecting genes involved in every aspect of the organelle function. As a consequence, it is difficult to find a common cause for mitochondrial diseases and, subsequently, to offer a precise clinical definition of the pathology. Moreover, the complexity of this condition makes it challenging to identify possible therapies or drug targets.
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