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The ciliopathies are a group of disorders caused by defects in genes associated with primary cilia. A subset of these are characterized by highly penetrant obesity, but the rates of diabetes differ significantly between them. In this study, Lodh et al. characterized the potential contribution of insulin-producing pancreatic β-cells to this discrepancy.

Key Findings

Using zebrafish models of Bardet-Biedl Syndrome (BBS) and Alstrom Syndrome, we identified enhanced production of β-cells in BBS and a depletion of these cells in Alstrom. We found that these discrepancies were driven by differences in the genetic program underlying endocrine cell specification as well as differential response to overnutrition. Taken together, these findings suggest that genetic modulation of pancreatic β-cell mass plays a central role in susceptibility to obesity-associated diabetes.


  • Lodh S, Hostelley TL, Leitch CC, O’Hare EA, Zaghloul NA. Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. Hum Mol Genet. 2016 Jan 1;25(1):57-68. PMID: 26494903; PMCID: PMC4690491.

Read More: Human Molecular Genetics

Research Details

  • Research Center: Mid-Atlantic, Maryland
  • Center Contribution: The Biological Mechanisms and Functional Genomics of the Mid-Atlantic NORC contributed to this study by generation of zebrafish models of BBS and Alstrom Syndrome, phenotypic characterization of transgenic zebrafish, and completion of over nutrition assays.

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