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Title: In silico построение сети из генов-модификаторов хореи Гентингтона, обнаруженных при полногеномном сканировании
Other Titles: In silico reconstruction of genes-modifiers net of huntington disease revealed in genome-wide association study
Authors: Гомбоева, Д. Е.
metadata.dc.contributor.advisor: Пузырев, В. П.
Keywords: компьютерное моделирование; сети; гены; модификаторы; сканирование; генетические заболевания
Issue Date: 2018
Publisher: Издательский Дом Томского государственного университета
Citation: Гомбоева Д. Е. In silico построение сети из генов-модификаторов хореи Гентингтона, обнаруженных при полногеномном сканировании / Д. Е. Гомбоева ; науч. рук. В. П. Пузырев // Перспективы развития фундаментальных наук : сборник научных трудов XV Международной конференции студентов, аспирантов и молодых ученых, г. Томск, 24-27 апреля 2018 г. : в 7 т. — Томск : Издательский Дом Томского государственного университета, 2018. — Т. 4 : Биология и фундаментальная медицина. — [С. 30-32].
Abstract: Huntington disease is inherited neurodegenerative disease, which affects the striatum (caudate nucleus and putamen). The cause of HD is an expansion CAG-repeats in exon 1 in HTT gene (4p16.3), which encodes protein called huntingtin. This mutation leads to the elongated polyglutamine tract of huntingtin, causing the loss-of-function of the protein, which in normal conditions play role in vesicular transport, cell division, mitochondrial transport, transcription regulation and neurogenesis. Epidemiological studies have shown the decreasing of cancer risk for patients with HD. The distinct molecular mechanism which leads to such a phenomenon is still unknown. Particular studies have shown what the presence of mutant huntingtin, on contrary, is associated with acceleration of carcinogenesis in mouse model of HD, while the normal huntingtin inhibits the development of cancer. We suggest what the phenomenon of inverse comorbidity of HD with oncological diseases might be cause of the effects of other molecular-genetic mechanisms, particularly cause of genes-modifiers of HD. There are 800 putative genes which take part in the modification of HD. We have taken free access data from genome- wide association study of genetic variants associated with HD progression of HD patients from Europe in order to perform a functional annotation of these genes, using a special tool HDNetDB, which enables to reconstruct genetic networks and to provide a functional analysis.
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