期刊
NATURE REVIEWS GENETICS
卷 23, 期 10, 页码 606-623出版社
NATURE PORTFOLIO
DOI: 10.1038/s41576-022-00480-x
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资金
- National Health and Medical Research Council
- Australian Research Council
- Cancer Council of Western Australia
- Telethon Kids Institute
The mitochondrial genome encodes core subunits essential for energy conversion. New technologies and disease models provide deeper insights into mitochondrial genome organization and expression, as well as diseases caused by impaired energy conversion.
The mitochondrial genome encodes core subunits of the respiratory chain that drives oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in high-throughput sequencing technologies and cryoelectron microscopy have shed light on the structure and organization of the mitochondrial genome and revealed unique mechanisms of mitochondrial gene regulation. New animal models of impaired mitochondrial protein synthesis have shown how the coordinated regulation of the cytoplasmic and mitochondrial translation machineries ensures the correct assembly of the respiratory chain complexes. These new technologies and disease models are providing a deeper understanding of mitochondrial genome organization and expression and of the diseases caused by impaired energy conversion, including mitochondrial, neurodegenerative, cardiovascular and metabolic diseases. They also provide avenues for the development of treatments for these conditions. Rackham and Filipovska review our current understanding of mitochondrial genome organization and expression, and discuss how new technologies and animal models are providing insights into how its mis-regulation leads to diseases of impaired energy conversion.
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