عرض بسيط للتسجيلة

المؤلفAlaa, Abbas
المؤلفHammad, Ayat S
المؤلفAl-Shafai, Mashael
تاريخ الإتاحة2024-03-14T10:25:54Z
تاريخ النشر2023-12-14
اسم المنشورMutation Research/Reviews in Mutation Research
المعرّفhttp://dx.doi.org/10.1016/j.mrrev.2023.108487
الاقتباسAbbas, A., Hammad, A. S., & Al-Shafai, M. (2023). The Role of Genetic and Epigenetic GNAS Alterations in the Development of Early-Onset Obesity. Mutation Research/Reviews in Mutation Research, 108487.
الرقم المعياري الدولي للكتاب1383-5742
معرّف المصادر الموحدhttps://www.sciencedirect.com/science/article/pii/S1383574223000352
معرّف المصادر الموحدhttp://hdl.handle.net/10576/53084
الملخصBackgroundGNAS (guanine nucleotide-binding protein, alpha stimulating) is an imprinted gene that encodes Gsα, the α subunit of the heterotrimeric stimulatory G protein. This subunit mediates the signalling of a diverse array of G protein-coupled receptors (GPCRs), including the melanocortin 4 receptor (MC4R) that serves a pivotal role in regulating food intake, energy homoeostasis, and body weight. Genetic or epigenetic alterations in GNAS are known to cause pseudohypoparathyroidism in its different subtypes and have been recently associated with isolated, early-onset, severe obesity. Given the diverse biological functions that Gsα serves, multiple molecular mechanisms involving various GPCRs, such as MC4R, β2- and β3-adrenoceptors, and corticotropin-releasing hormone receptor, have been implicated in the pathophysiology of severe, early-onset obesity that results from genetic or epigenetic GNAS changes. Scope of reviewThis review examines the structure and function of GNAS and provides an overview of the disorders that are caused by defects in this gene and may feature early-onset obesity. Moreover, it elucidates the potential molecular mechanisms underlying Gsα deficiency-induced early-onset obesity, highlighting some of their implications for the diagnosis, management, and treatment of this complex condition. Major conclusionsGsα deficiency is an underappreciated cause of early-onset, severe obesity. Therefore, screening children with unexplained, severe obesity for GNAS defects is recommended, to enhance the molecular diagnosis and management of this condition.
راعي المشروعThis work was supported by the Qatar National Research Fund’s Early Career Researcher Award [grant number ECRA02–008-3-007 ].
اللغةen
الناشرElsevier
الموضوعEarly-onset obesity
Stimulatory G protein alpha subunit
Molecular mechanisms
Mutations
Methylation defects
العنوانThe role of genetic and epigenetic GNAS alterations in the development of early-onset obesity
النوعArticle
رقم المجلد793
Open Access user License http://creativecommons.org/licenses/by/4.0/
ESSN1388-2139
dc.accessType Full Text


الملفات في هذه التسجيلة

Thumbnail

هذه التسجيلة تظهر في المجموعات التالية

عرض بسيط للتسجيلة