دورية أكاديمية
Molecular mechanisms of autism as a form of synaptic dysfunction ; Аутизм как проявление нарушения молекулярных механизмов регуляции развития и функций синапсов
| العنوان: | Molecular mechanisms of autism as a form of synaptic dysfunction ; Аутизм как проявление нарушения молекулярных механизмов регуляции развития и функций синапсов |
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| المؤلفون: | E. A. Trifonova, T. M. Khlebodarova, N. E. Gruntenko, Е. А. Трифонова, Т. М. Хлебодарова, Н. Е. Грунтенко |
| المصدر: | Vavilov Journal of Genetics and Breeding; Том 20, № 6 (2016); 959-967 ; Вавиловский журнал генетики и селекции; Том 20, № 6 (2016); 959-967 ; 2500-3259 ; 2500-0462 |
| بيانات النشر: | Institute of Cytology and Genetics of Siberian Branch of the RAS |
| سنة النشر: | 2017 |
| المجموعة: | Vavilov Journal of Genetics and Breeding / Вавиловский журнал генетики и селекции |
| مصطلحات موضوعية: | синдромный аутизм, the synapse, mechanistic or mammalian target of rapamycin (mTOR), mechanism-based therapy, syndromic autism, синапс, mTOR, механизм-обоснованная терапия |
| الوصف: | Autism spectrum disorders are a separate group of defects with a very high genetic component. Genetic screening has identified hundreds of mutations and other genetic variations associated with autism, and bioinformatic analysis of signaling pathways and gene networks has led to understanding that many of these mutational changes are involved in the functioning of synapses. A synapse is a site of electrochemical communication between neurons and an essential subunit for learning and memory. Interneuronal communicative relationships are plastic. The most prominent forms of synaptic plasticity are accompanied by changes in protein biosynthesis, both in neuron body and in dendrites. Protein biosynthesis or translation is a carefully regulated process, with a central role played by mTOR (mammalian or mechanistic target of rapamycin). Normally mTOR-regulated translation is slightly inhibited, and in most cases mutational damage to at least one of the links of the mTOR signaling pathway, increases translation and leads to impaired synaptic plasticity and behavior. Deregulation of the local translation in dendrites is connected with the following monogenic autism spectrum disorders: neurofibromatosis type 1, Noonan syndrome, Costello syndrome, Cowden syndrome, tuberous sclerosis, fragile X chromosome, syndrome, and Rett syndrome. The review considers the most important mutations leading to monogenic autism, as well as the possibility of a mechanism-based treatment of certain disorders of the autism spectrum. ; Расстройства аутистического спектра – отдельная группа дефектов развития с очень высокой генетической компонентой. Генетический скрининг выявил множество различных генетических вариаций, связанных с аутизмом, а биоинформатический анализ сигнальных путей и генных сетей привел к пониманию, что многие из этих мутационных изменений вовлечены в функционирование синапсов. Синапс является местом электрохимической коммуникации между нейронами и необходимой субъединицей для обучения и формирования памяти. Межнейронная ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | Russian |
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| DOI: | 10.18699/VJ16.217 |
| الإتاحة: | https://doi.org/10.18699/VJ16.217Test https://doi.org/10.1002Test/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2-B https://doi.org/10.1542/peds.2014Test- https://doi.org/10.1002/1096Test- https://doi.org/10.1038/natureTest https://vavilov.elpub.ru/jour/article/view/878Test |
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| رقم الانضمام: | edsbas.39B29F57 |
| قاعدة البيانات: | BASE |
| DOI: | 10.18699/VJ16.217 |
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