The BBSome: a nexus controlling energy metabolism in the brain

被引：8

作者：

Blaess, Sandra ^{[1
]}

Wachten, Dagmar ^{[2
]}

机构：

[1] Univ Bonn, Inst Reconstruct Neurobiol, Neurodev Genet, Bonn, Germany

[2] Univ Bonn, Med Fac, Dept Biophys Imaging, Inst Innate Immun, Bonn, Germany

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2021年 / 131卷 / 08期

关键词：

PRIMARY CILIA; MOUSE MODEL; OBESITY; PHENOTYPES; ADCY3;

D O I：

10.1172/JCI148903

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Bardet-Biedl syndrome (BBS) is a syndromic ciliopathy that has obesity as a cardinal feature. BBS is caused by mutations in BBS genes. BBS proteins control primary cilia function, and BBS mutations therefore lead to dysfunctional primary cilia. Obesity in patients with BBS is mainly caused by hyperphagia due to dysregulated neuronal function in the brain, in particular in the hypothalamus. However, the mechanism by which mutations in BBS genes result in dysfunction in hypothalamic neurons is not well understood. In this issue of the JCI, Wang et al. used BBS and non-BBS patient?derived induced pluripotent stem cells to generate neurons and hypothalamic neurons. Using this human model system, the authors demonstrated that mutations in BBS genes affected primary cilia function, neuronal morphology, and signaling pathways regulating the function of hypothalamic neurons, which control energy homeostasis. This study provides important insights into the mechanisms of BBS-induced obesity.

引用

页数：5

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