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V369M Gcgr 基因敲入小鼠是马凡氏综合征轻度表型的精准医学模型。

The V369M Gcgr knock-in mice are a precision medicine model of mild Mahvash disease.

机构信息

Division of Endocrinology, UCLA David Geffen School of Medicine, Los Angeles, CA 90095, U.S.A.

出版信息

Biochem J. 2020 Aug 14;477(15):2873-2874. doi: 10.1042/BCJ20200522.

Abstract

The detailed metabolic characterization of the glucagon receptor (Gcgr)V369M+/+ mutant mice described in Lin et al. in the Biochemical Journal is of interest and resulting in the expected metabolic profile. We would like to point out that these mice might also be extremely useful as a precision medicine model of mild Mahvash disease, a rare hereditary pancreatic neuroendocrine tumor syndrome characterized by inactivating mutations in the glucagon receptor. Further characterization of pancreas morphology and histology in the GcgrV369M+/+ mice at more advanced ages will be critically important to understand mild Mahvash disease in humans.

摘要

林等人在《生物化学杂志》上描述的胰高血糖素受体 (Gcgr)V369M+/+ 突变小鼠的详细代谢特征引起了人们的兴趣,并产生了预期的代谢特征。我们想指出的是,这些小鼠也可能非常有用,可以作为轻度 Mahvash 病的精准医疗模型,这是一种罕见的遗传性胰腺神经内分泌肿瘤综合征,其特征是胰高血糖素受体的失活突变。进一步研究 GcgrV369M+/+ 小鼠在更老年时的胰腺形态和组织学特征对于理解人类的轻度 Mahvash 病至关重要。

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