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Интеллектуальная Система Тематического Исследования НАукометрических данных |
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MERRF SYNDROME (MYOCLONIC EPILEPSY WITH RAGGED RED FIBERS). REVIEW WITH A CLINICAL CASEстатья
- Авторы: Redko A.D., Babadjanova G.Y.
- Журнал: Deutsche internationale Zeitschrift für zeitgenössische Wissenschaft
- Номер: 75
- Год издания: 2024
- Издательство: Artmedia24
- Местоположение издательства: Satteldorf, Germany
- Первая страница: 36
- Последняя страница: 44
- DOI: 10.5281/zenodo.10786349
- Аннотация: Mitochondrial diseases are a special group of hereditary diseases caused by genetic, structural, and biochemical defects of mitochondria, leading to disorders of tissue respiration. Their distinctive feature is that they are transmitted only through the female line, but to children of both sexes (since the source of mitochondria in the zygote is an egg). Disorders of cellular energy metabolism can manifest as defects in processes such as the Krebs cycle, electronic transport in the respiratory chain, beta oxidation, etc. It is worth noting that most mitochondrial genes are under the control of nuclear genes. Therefore, if mutations occur in mitochondrial DNA, then more often they do not have a significant phenotypic manifestation. This fact explains why mitochondrial diseases are extremely rare.There are more than 350 mitochondrial diseases, each of which has many difficulties in the diagnosis and treatment of such patients. One of the most common mitochondrial diseases with a very vivid clinical picture is MERRF syndrome (myoclonus — epilepsy with ragged red fibers). The name of this syndrome shows that it is characterized by damage to the nervous system (epileptic seizures) and the muscular apparatus (muscle weakness, reduced contractility of the heart) and less common symptoms (lipomatosis, optical atrophy).
- Добавил в систему: Редько Артём Дмитриевич