Heterogeneity of mitochondrial diseases caused by defects in mitochondrial respiratory chain complex I
| Autor: | E. A. Nikolaeva |
|---|---|
| Jazyk: | ruština |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 60, Iss 3, Pp 21-25 (2016) |
| ISSN: | 2500-2228 1027-4065 |
| Popis: | The common cause of mitochondrial diseases is hereditary defects in mitochondrial respiratory chain complex I, which account for about 30% of the cases of mitochondrial diseases in children. Complex I is the largest and most complicated enzyme complex of the respiratory electron chain. The function of Complex I is controlled by both nuclear and mitochondrial genomes and it seems to be determined by at least 300 genes. Complex I is comprised of 45 subunits: 7 of them are encoded by mitochondrial DNA, the others are by nuclear DNA. Besides, there are additional factors that are located outside Complex I, but determine its stability and activity. The paper analyzes the clinical forms of Complex I deficiency-induced diseases; the most common of them is Leigh syndrome. The diseases are generally characterized by an early onset, severe involvement of the nervous, muscular, and cardiovascular systems. If the treatment is ineffective, it is particularly important to identify a gene mutation to verify the diagnosis, as well as antenatal diagnosis. |
| Databáze: | OpenAIRE |
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