Date: 6 months ago   Category: Studies

Geneticists from Russia have opened a new rare form of an atrophy of a brain - RIA Novosti, 8/27/2018


MOSCOW, 27 Aug — RIA Novosti. Scientists from NPTs of children's psychoneurology and the medico-genetic center Genotek have opened a new mutation which leads to development of a lipofuscinosis — the rare hereditary disease leading to a brain atrophy. Her description has been published in the magazine BMC Medical Genetics.© Illustration of RIA Novosti. Alina Polyanina, Depositphotos/SergeyNivens Scientists have found out that causes aging of a brain and fading памятиКак is reported by the press service of the company, three years ago the five-year-old girl has come to the Center of children's psychoneurology of Moscow. She couldn't go or creep, didn't talk, badly saw and didn't show any interest in the world around. According to parents, up to two and a half years the child developed normally, however over time she reduced a lexicon, she became clumsy, and by five years has ceased to go absolutely. In the different medical centers doctors made different diagnoses, the set of various analyses has been carried out, however all of them were negative. Initially scientists thought that the girl suffers from Rhett's syndrome, the serious illness of a brain arising only at women and connected with a mutation in MECP2 gene. The first checks of a condition of her nervous tissue have shown that it not so: data of EEG and pictures with MRT have indicated an atrophy of bark of a brain and the serious violations in work of other his parts that usually doesn't occur at development of a syndrome. For this reason doctors recommended to carry out sequencing of an ekzom — a "significant" part of all genes to DNA where usually there are mutations connected with similar diseases. Having asked for the help experts of Genotek, physicians have obtained data on a totality of mutations in a genome of the girl and have tried to find in them the reason of development of her unusual disease. © the Russian biologists have told Depositphotos/Gorodenkoff why mutations don't ruin вирусыКак it has appeared, the mutation new, earlier unknown to the scientist in MFSD8 gene connected with development of a lipofuscinosis, other serious genetic disease of a brain was the cause of it. Scientists mean a big complex of the serious violations in work of the neurons connected with diverse failures in work of so-called lysosomes, cellular "musorosborshchik" by this word. Deterioration in their work leads to accumulation of a lipofustsin, "old age pigment", in nervous cages that leads to their mass death and an atrophy of a brain. MFSD8 gene as scientists explain, is responsible for transfer of proteins and other molecules in lysosomes, and his damage, most likely, too puts them out of action. In this case replacement of only one genetic "letter", T on And, has led to emergence of wrong "stoplight" and the premature termination of assembly of molecules of protein in neurons of the girl. © Photo: Scientists have found out Georgia Tech/Rob Felt how the brain distinguishes hallucinations from реальностиЭтот a case as scientists note, expands number of mutations in MFSD8 connected with development of a lipofuscinosis from 38 to 39 dot "typos" in its structure. Each of them causes approximately identical consequences for life of their carrier which to get

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