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Diabetes mellitus and genetically programmed defects in β-cell function

Nature volume 414, pages 788–791 (2001)Cite this article

Abstract

The pathways that control insulin secretion and regulate pancreatic β-cell mass are crucial in the development of diabetes mellitus. Maturity-onset diabetes of the young comprises a number of single-gene disorders affecting pancreatic β-cell function, and the consequences of mutations in these genes are so serious that diabetes develops in childhood or adolescence. A genetic basis for the more common form of type 2 diabetes, which affects 10–20% of adults in many developed countries, is less clear cut. It is also characterized by abnormal β-cell function, but other tissues are involved as well. However, in both forms identification of causative and susceptibility genes are providing new insight into the control of insulin action and secretion, as well as suggesting new treatments for diabetes.

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Figure 1: Model of a pancreatic β-cell showing proteins associated with MODY and other forms of β-cell dysfunction.

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Acknowledgements

We thank the members of our laboratories for their contributions to the studies presented here. This work was supported by grants from the NIH and a gift from the Blum-Kovler Foundation. G.I.B. is an investigator of the Howard Hughes Medical Institute.

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  1. Howard Hughes Medical Institute and Departments of Biochemistry and Molecular Biology, Medicine and Human Genetics, The University of Chicago, Chicago, 60637, Illinois, USA

    Graeme I. Bell

  2. Departments of Medicine, and Cell Biology and Physiology, Washington University School of Medicine, St. Louis, 63110, Missouri, USA

    Kenneth S. Polonsky

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Bell, G., Polonsky, K. Diabetes mellitus and genetically programmed defects in β-cell function. Nature 414, 788–791 (2001). https://doi.org/10.1038/414788a

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