Loss of the ciliary gene
            <i>Bbs4</i>
            results in defective thermogenesis due to metabolic inefficiency and impaired lipid metabolism

Gohlke, Sabrina; Mancini, Carola; García-Carrizo, Francisco; Schulz, Tim J.

doi:10.1096/fj.202100772rr

Cited by 3 publications

(3 citation statements)

References 41 publications

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“…Bbs4 knockout mice have increased total fat content and body weight‐normalized fat mass, as well as higher levels of circulating triglycerides and high‐density lipoprotein, along with increases in the liver enzymes alkaline phosphatase and aspartate aminotransferase in plasma or a borderline increase in liver triglyceride concentrations at room temperature. However, following cold exposure, hepatic triglyceride content was significantly reduced (compared with wildtype controls), but with an additional impaired ‘browning’ response of inguinal white adipose tissue 56 …”

Section: Mechanisms Of Metabolic Dysfunction In Bardet‐biedl Syndromementioning

confidence: 93%

“…However, following cold exposure, hepatic triglyceride content was significantly reduced (compared with wildtype controls), but with an additional impaired 'browning' response of inguinal white adipose tissue. 56 Genetic knockdown of both Bbs10 and Bbs12 promotes an adipogenic phenotype. In addition, dermal fibroblasts from patients with Bbs10 and Bbs12 mutations have elevated triglyceride accumulation in cell culture experiments, 57 suggesting that these genes are important in driving peripheral mechanisms that may contribute to weight gain.…”

Section: Bardet-biedl Syndrome and Other Neuropeptidesmentioning

confidence: 99%

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Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction

Tomlinson

2024

Diabetes Obesity Metabolism

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Bardet‐Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic dysfunction, including obesity and an increased risk of type 2 diabetes. It is a primary ciliopathy, and causative mutations in more than 25 different genes have been described. Multiple cellular mechanisms contribute to the development of the metabolic phenotype associated with BBS, including hyperphagia as a consequence of altered hypothalamic appetite signalling as well as alterations in adipocyte biology promoting adipocyte proliferation and adipogenesis. Within this review, we describe in detail the metabolic phenotype associated with BBS and discuss the mechanisms that drive its evolution. In addition, we review current approaches to the metabolic management of patients with BBS, including the use of weight loss medications and bariatric surgery. Finally, we evaluate the potential of targeting hypothalamic appetite signalling to limit hyperphagia and induce clinically significant weight loss.

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Section: Mechanisms Of Metabolic Dysfunction In Bardet‐biedl Syndromementioning

confidence: 93%

Section: Bardet-biedl Syndrome and Other Neuropeptidesmentioning

confidence: 99%

Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction

Tomlinson

2024

Diabetes Obesity Metabolism

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“…Thermogenesis can also be inhibited by ciliary changes. A BBS4 knockout in mice results in defective thermogenesis, including an impaired beiging of subcutaneous WAT and lower maintainable body temperature under cold exposure ( Gohlke et al, 2021 ). Likewise, ALMS1 mutant mice have defective adaptive thermogenesis in response to HFD and cold exposure compared to wildtype littermates ( Poekes et al, 2017 ).…”

Section: Introductionmentioning

confidence: 99%

Ciliary control of adipocyte progenitor cell fate regulates energy storage

Scamfer

Lee

Hilgendorf

2022

Front. Cell Dev. Biol.

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The primary cilium is a cellular sensory organelle found in most cells in our body. This includes adipocyte progenitor cells in our adipose tissue, a complex organ involved in energy storage, endocrine signaling, and thermogenesis. Numerous studies have shown that the primary cilium plays a critical role in directing the cell fate of adipocyte progenitor cells in multiple adipose tissue types. Accordingly, diseases with dysfunctional cilia called ciliopathies have a broad range of clinical manifestations, including obesity and diabetes. This review summarizes our current understanding of how the primary cilium regulates adipocyte progenitor cell fate in multiple contexts and illustrates the importance of the primary cilium in regulating energy storage and adipose tissue function.

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Peripheral and central control of obesity by primary cilia

Zhou

Yang

2023

Journal of Genetics and Genomics

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Loss of the ciliary gene Bbs4 results in defective thermogenesis due to metabolic inefficiency and impaired lipid metabolism

Abstract: This is an open access article under the terms of the Creat ive Commo ns Attri bution-NonCo mmercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 3 publications

References 41 publications

Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction

Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction

Ciliary control of adipocyte progenitor cell fate regulates energy storage

Peripheral and central control of obesity by primary cilia

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