GNAS gene mutations affecting XLαs and bone health: A long neglected relationship

Author:

Xie Yanni1,Chen Xiang1ORCID,Xie Ying1,Yu Xijie1ORCID

Affiliation:

1. Laboratory of Endocrinology and Metabolism/Department of Endocrinology and Metabolism, Rare Disease Center West China Hospital, Sichuan University Chengdu China

Abstract

AbstractThe GNAS locus is an imprinted site. The α‐subunit of the stimulatory G protein (Gsα) and extralarge variant (XLαs) are the two important products of the GNAS locus. The abnormal expression of Gsα is associated with pseudohypoparathyroidism (PHP) and related disorders, including Albright hereditary osteodystrophy (AHO), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH). XLαs protein can mimic the catalytic intracellular synthesis of cyclic adenosine monophosphate (cAMP) by Gsα in response to parathyroid hormone (PTH) stimulation, which may be involved in the pathogenesis of PPHP and POH in patients with paternal GNAS defects. A paternally inherited nonsense variant in the first exon of XLαs in an adult patient may be associated with fractures and osteopetrosis. The relationship between the XLαs product of the GNAS locus and bone remodeling may have been overlooked. Here, we summarize the phenotypes of genetic mouse models and clinical cases of XLαs variations and suggest that the abnormal paternal expression of XLαs may be associated with the development of POH and affect osteoblast and osteoclast differentiation.

Funder

National Natural Science Foundation of China

Department of Science and Technology of Sichuan Province

Sichuan University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Non-canonical G protein signaling;Pharmacology & Therapeutics;2024-01

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