ArticleHuman molecular genetics2016
Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Consensus clinical management guidelines for Alström syndrome.Orphanet journal of rare diseases · 2020Pooled it
- ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.Nature communications · 2019Pooled it
- Compartmentalized Nutrient and Hormone Sensing in β-Cells: the Role of Primary Cilia.Physiology (Bethesda, Md.) · 2026Review
- Follistatin like-1 (Adipocyte · 2024Article
- Adipose Tissue Hyperplasia and Hypertrophy in Common and Syndromic Obesity-The Case of BBS Obesity.Nutrients · 2023Review
- Adipose tissue function and insulin sensitivity in syndromic obesity of Bardet-Biedl syndrome.International journal of obesity (2005) · 2023Article
- Fluorescence imaging of beta cell primary cilia.Frontiers in endocrinology · 2022Article
- Primary Cilia in Pancreatic β- and α-Cells: Time to Revisit the Role of Insulin-Degrading Enzyme.Frontiers in endocrinology · 2022Review
- Islet cilia and glucose homeostasis.Frontiers in cell and developmental biology · 2022Review
- Article
- Exocrine pancreas proteases regulate β-cell proliferation in zebrafish ciliopathy models and in murine systems.Biology open · 2021Article
- Alström syndrome with a novel mutation ofWorld journal of clinical cases · 2021Article
- Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.Endocrine · 2021Review
- Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.Frontiers in genetics · 2021Article
- Glucose homeostasis is regulated by pancreatic β-cell cilia via endosomal EphA-processing.Nature communications · 2019Article
- Primary Cilium, An Unsung Hero in Maintaining Functional β-cell Population.The Yale journal of biology and medicine · 2019Review
- Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.Human molecular genetics · 2019Article
- ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.Journal of molecular medicine (Berlin, Germany) · 2019Review
- Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.The Journal of clinical endocrinology and metabolism · 2018Article
- Sample Preparation and Analysis of RNASeq-based Gene Expression Data from Zebrafish.Journal of visualized experiments : JoVE · 2017Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Rare genetic syndromes characterized by early-onset type 2 diabetes have revealed the importance of pancreatic β-cells in genetic susceptibility to diabetes. However, the role of genetic regulation of β-cells in disorders that are also characterized by highly penetrant obesity, a major additional risk factor, is unclear. In this study, we investigated the contribution of genes associated with two obesity ciliopathies, Bardet-Biedl Syndrome and Alstrom Syndrome, to the production and maintenance of pancreatic β-cells. Using zebrafish models of these syndromes, we identified opposing effects on production of β-cells. Loss of the Alstrom gene, alms1, resulted in a significant decrease in β-cell production whereas loss of BBS genes, bbs1 or bbs4, resulted in a significant increase. Examination of the regulatory program underlying β-cell production suggested that these effects were specific to β-cells. In addition to the initial production of β-cells, we observed significant differences in their continued maintenance. Under prolonged exposure to high glucose conditions, alms1-deficient β-cells were unable to continually expand as a result of decreased proliferation and increased cell death. Although bbs1-deficient β-cells were similarly susceptible to apoptosis, the overall maintenance of β-cell number in those animals was sustained likely due to increased proliferation. Taken together, these findings implicate discrepant production and maintenance of β-cells in the differential susceptibility to diabetes found between these two genetic syndromes.
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Registered trials
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