diaendoСахарный диабетDiabetes mellitus2072-03512072-0378Endocrinology research centre10.14341/2072-0351-5532diaendo-5532Research ArticleСтатьиArticlesСахарный диабет и другая патология у пациентов с мутациями в генах INS или INSRDiabetes mellitus and other pathology in patients with INS and INSR mutationsПанковЮрий АлександровичPankovYury AlexandrovichPankov.Yuriy@endocrincentr.ruФГБУ "Эндокринологический научный центр" Минздрава РоссииРоссияEndocrinology Research CentreRussian Federation201215122012154№4 (2012)1116Copyright © Панков Ю.А., 20122012Панков Ю.А.Pankov Y.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.dia-endojournals.ru/jour/article/view/5532

Более 20 доминантных миссенс мутаций и нонсенс мутация Y108X в гене INS индуцируют синтез химерных белков, способных нарушать сворачивание и процессинг всех молекул инсулина. В гетерозиготном состоянии они вызывают дефицит гормона и ассоциируют с перманентным неонатальным диабетом (PND). Более 10 рецессивных мутаций и нонсенс мутация p.Q62X в гене INS не индуцируют синтез аномальных белков и только в гомозиготном состоянии сочетаются с PND. Больше всего мутаций выявлено в гене INSR. Они ассоциируют с резистентностью к инсулину, липодистрофией и другими нарушениями и свидетельствуют о важной роли инсулина в стимуляции накопления жировых запасов и в регуляции рационального использования липидов в энергетическом обмене.

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.

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The authors declare that there are no conflicts of interest present.