The BBSome: a nexus controlling energy metabolism in the brain
Sandra Blaess1 and Dagmar Wachten2
1Neurodevelopmental Genetics, Institute of Reconstructive Neurobiology and
2Institute of Innate Immunity, Department of Biophysical Imaging, Medical Faculty, University of Bonn, Bonn, Germany.
Address correspondence to: Sandra Blaess, Neurodevelopmental Genetics, Institute of Reconstructive Neurobiology, Life and Brain Center, Venusberg-Campus 1, 53127 Bonn, Germany. Phone: 49.228.6885.540; Email: sblaess@uni-bonn.de. Or to: Dagmar Wachten, Institute of Innate Immunity, Department of Biophysical Imaging, BMZ-II, Venusberg-Campus 1, 53127 Bonn, Germany. Phone: 49.228.287.51978; Email: dwachten@uni-bonn.de.
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1Neurodevelopmental Genetics, Institute of Reconstructive Neurobiology and
2Institute of Innate Immunity, Department of Biophysical Imaging, Medical Faculty, University of Bonn, Bonn, Germany.
Address correspondence to: Sandra Blaess, Neurodevelopmental Genetics, Institute of Reconstructive Neurobiology, Life and Brain Center, Venusberg-Campus 1, 53127 Bonn, Germany. Phone: 49.228.6885.540; Email: sblaess@uni-bonn.de. Or to: Dagmar Wachten, Institute of Innate Immunity, Department of Biophysical Imaging, BMZ-II, Venusberg-Campus 1, 53127 Bonn, Germany. Phone: 49.228.287.51978; Email: dwachten@uni-bonn.de.
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Published April 15, 2021 - More info
J Clin Invest. 2021;131(8):e148903. https://doi.org/10.1172/JCI148903.
© 2021 American Society for Clinical Investigation
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.
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