Date: 8 months ago   Category: Studies

The Russian scientists have opened the mutation destroying bodies at children - RIA Novosti, 9/26/2018


MOSCOW, 26 Sep — RIA Novosti. Specialists of Clinical institute of pediatrics, the Russian children's clinical hospital and the medico-genetic center Genotek have for the first time found extremely rare mutation in CTNS gene which is slowly destroying human organs in Russia. Her description is presented in the magazine Clinical Case Reports.© Illustration of RIA Novosti. Depositphotos/maximkabb, Depositphotos/Wavebreakmedia When the diagnosis — a lottery: interpretation of a genome "will save from rare mutations Carriers of this mutation usually are born during normal childbirth and look healthy. The first symptoms of a disease appear only to the sixth - twelfth to month of life. Sequencing of an ekzom as shows our research, will allow doctors to find her traces in a womb of mother or before at the patient work of kidneys is broken" — Valery Ilyinsky, the geneticist and the CEO of Genotek, and his colleague write. Life of cells of the person, as well as all other living beings, directly depends on work of several thousand genes conducting circulation of substances and utilization of various "garbage". Even small violations in structure of genes, for example single "typos" in DNA, can cause serious problems with health and even to lead to death at early age. The striking example of it is considered цистиноз — the rare genetic disease arising at damage of a gene of CTNS. This site of DNA as scientists explain, is responsible for transportation of molecules of cystine (one of the major amino acids) in lysosomes — main "incinerators" cage.© of Fotolia/Dan Race of Genetics from Russia have opened a new rare form of an atrophy of a mozganarusheniye in work of CTNS lead to the fact that cystine begins to collect in lysosomes in the form of microscopic crystals, and it leads to mass death of cages and destruction of bodies. The first kidneys and eyes (usually it is shown in the first two years of life), and later — other parts of a body suffer. Now scientists know in total about hundred mutations of CTNS causing цистиноз, and all of them meet very seldom: on each carrier about 100-200 thousand people with the intact version of a gene are necessary. Some mutations still didn't find in the territory of Russia or the countries of the former USSR yet. As the press service of Genotek notes, Ilyinsky and his colleagues have recorded the first case of emergence in Russia of one of the most rare mutations in CTNS. They have found her when studying the clinical record of the two-year-old boy from Ingushetia who has got recently to the Russian children's clinical hospital of Pirogov with very strange symptoms. As parents have told, in the first eight months the child developed normally, however then has begun to lose weight, has ceased to go and creep. Initially physicians assumed what has put in some neurodegenerate disease, but approximately in one and a half years at the boy kidneys have begun to refuse, and it didn't keep within the initial assumption. The worsening condition of the child and the unclear nature of a disease have forced physicians to ask for the help Ilyinsky and his team and to carry out sequencing ekzy

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