Diabetes mellitus and other pathology in patients with INS and INSR mutations

Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules. In heterozygous state they cause insulin deficiency and PND. Over 10 recessive mutations and the p.Q62X nonsen...

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Autor principal:	Yury Alexandrovich Pankov
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2012
Materias:	инсулин рецептор обмен веществ Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/9800dd6063a3485184508d8b36144cab
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spelling	oai:doaj.org-article:9800dd6063a3485184508d8b36144cab2021-11-14T09:00:17ZDiabetes mellitus and other pathology in patients with INS and INSR mutations2072-03512072-037810.14341/2072-0351-5532https://doaj.org/article/9800dd6063a3485184508d8b36144cab2012-12-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/5532https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules. In heterozygous state they cause insulin deficiency and PND. Over 10 recessive mutations and the p.Q62X nonsense mutation of INS do not induce synthesis of anomalous protein, being associated with PND only in homozygous state. Most of significant mutations that induce insulin resistance, lipodystrophy, and other pathology were found in INSR gene. Lipodistrophy suggests an important role of insulin in stimulating fat accumulation and controlling lipid consumption in energy metabolosm.Yury Alexandrovich PankovEndocrinology Research Centrearticleинсулинрецепторобмен веществNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 15, Iss 4, Pp 11-16 (2012)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	инсулин рецептор обмен веществ Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	инсулин рецептор обмен веществ Nutritional diseases. Deficiency diseases RC620-627 Yury Alexandrovich Pankov Diabetes mellitus and other pathology in patients with INS and INSR mutations
description	Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules. In heterozygous state they cause insulin deficiency and PND. Over 10 recessive mutations and the p.Q62X nonsense mutation of INS do not induce synthesis of anomalous protein, being associated with PND only in homozygous state. Most of significant mutations that induce insulin resistance, lipodystrophy, and other pathology were found in INSR gene. Lipodistrophy suggests an important role of insulin in stimulating fat accumulation and controlling lipid consumption in energy metabolosm.
format	article
author	Yury Alexandrovich Pankov
author_facet	Yury Alexandrovich Pankov
author_sort	Yury Alexandrovich Pankov
title	Diabetes mellitus and other pathology in patients with INS and INSR mutations
title_short	Diabetes mellitus and other pathology in patients with INS and INSR mutations
title_full	Diabetes mellitus and other pathology in patients with INS and INSR mutations
title_fullStr	Diabetes mellitus and other pathology in patients with INS and INSR mutations
title_full_unstemmed	Diabetes mellitus and other pathology in patients with INS and INSR mutations
title_sort	diabetes mellitus and other pathology in patients with ins and insr mutations
publisher	Endocrinology Research Centre
publishDate	2012
url	https://doaj.org/article/9800dd6063a3485184508d8b36144cab
work_keys_str_mv	AT yuryalexandrovichpankov diabetesmellitusandotherpathologyinpatientswithinsandinsrmutations
_version_	1718429596341239808

Diabetes mellitus and other pathology in patients with INS and INSR mutations

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