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AnyGenes

Signaling Pathways title  Human Mitochondria, other organelle genome

Human mitochondria with their own small circular genome (mtDNA) plays a central role in many processes such as ATP production, cell proliferation and regulating apoptosis processes, calcium buffering, ROS production, the biosynthesis of hormones and vitamins, inflammation …(1,2,4).

Human-Mitochondria-mtDNA

 
Schematic of human mtDNA and basic steps of mtRNA metabolism (1)
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Signaling Pathways title  Human mitochondria and diseases

Mitochondrial diseases are among the most common genetically determined metabolic diseases and are the only genetic conditions in humans that have involvement of two different genomes (3).
Clinical studies showed that a large number of mitochondrial proteins can be altered in expression and function through genetic, epigenetic or biochemical mechanisms including the interaction with environmental toxics or iatrogenic medicine. This alteration can lead to very severe and invalidating diseases: rare neurodegenerative diseases (Huntington's disease, Hereditary Spastic Paraplegias (HSP), Troyer syndrome, Creutzfeldt-Jakob Disease (CJD), Autosomal dominant cerebellar ataxia-deafness and narcolepsy (ADCADN)), MELAS (mitochondrial encephalomyopathy lactic acidosis, and stroke-like episodes), LHON (Leber’s hereditary optic neuropathy), MERRF syndrome (Myoclonus epilepsy with ragged-red fibers), aging disorders, immune diseases (Systemic lupus erythematosus (SLE), Inflammatory bowel diseases (IBD), … (4,5).
(1) Kotrys AV, Szczesny RJ. Mitochondrial Gene Expression and Beyond-Novel Aspects of Cellular Physiology. Cells (2019);9(1):17. 
(2) Park D, Lee S, Min KT. Techniques for investigating mitochondrial gene expression. BMB Rep. (2020);53(1):3-9.
(3) Russell OM et al. Mitochondrial Diseases: Hope for the Future. Cell. (2020);181(1):168-188.
(4) Dard L, et al. Mitochondrial functions and rare diseases. Mol Aspects Med. (2020);71:100842.
(5) Habbane M, et al. Human Mitochondrial DNA: Particularities and Diseases. Biomedicines. (2021); 9(10): 1364
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