Diabetes mellitus and genetically programmed defects in β-cell function
Abstract
The pathways that control insulin secretion and regulate pancreatic beta-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 beta-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 beta-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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Mendelian subtypes of common diseases were elucidated, but mutations in these genes explained few cases in the population.
“Mendelian subtypes of common diseases [such as breast cancer (15), hypertension (16), and diabetes (17)] were elucidated, but mutations in these genes explained few cases in the population.”
From Genetic Mapping in Human Disease (2008) · cites this paper as [17]
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- Authors
- Bell, G. I., & Polonsky, K. S.
- Affiliations
- Howard Hughes Medical Institute (US)
- Washington University in St. Louis (US)
- Venue
- Nature
- Published
- 2001-12
- Volume
- 414
- Issue
- 6865
- Pages
- 788-791
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2000511325
- Cited by
- 475
- References
- 57
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 11 · 2021: 12 · 2020: 12 · 2019: 9 · 2018: 17 · 2017: 13 · 2016: 16 · 2015: 19 · 2014: 26 · 2013: 16 · 2012: 25
- FWCI
- 5.37
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- diabetes mellitus, beta-cell function, insulin secretion, beta-cell mass, maturity-onset diabetes of the young, monogenic disorders, type 2 diabetes, susceptibility genes, causal genes, insulin action, diabetes treatment
- MeSH terms
- Insulin Secretion, Animals, Diabetes Mellitus, Diabetes Mellitus, Type 2, Humans, Insulin, Islets of Langerhans
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