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Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus
Open accessAbstract
BACKGROUND: The ATP-sensitive potassium (K(ATP)) channel, composed of the beta-cell proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6.2, is a key regulator of insulin release. It is inhibited by the binding of adenine nucleotides to subunit Kir6.2, which closes the channel, and activated by nucleotide binding or hydrolysis on SUR1, which opens the channel. The balance of these opposing actions determines the low open-channel probability, P(O), which controls the excitability of pancreatic beta cells. We hypothesized that activating mutations in ABCC8, which encodes SUR1, cause neonatal diabetes. METHODS: We screened the 39 exons of ABCC8 in 34 patients with permanent or transient neonatal diabetes of unknown origin. We assayed the electrophysiologic activity of mutant and wild-type K(ATP) channels. RESULTS: We identified seven missense mutations in nine patients. Four mutations were familial and showed vertical transmission with neonatal and adult-onset diabetes; the remaining mutations were not transmitted and not found in more than 300 patients without diabetes or with early-onset diabetes of similar genetic background. Mutant channels in intact cells and in physiologic concentrations of magnesium ATP had a markedly higher P(O) than did wild-type channels. These overactive channels remained sensitive to sulfonylurea, and treatment with sulfonylureas resulted in euglycemia. CONCLUSIONS: Dominant mutations in ABCC8 accounted for 12 percent of cases of neonatal diabetes in the study group. Diabetes results from a newly discovered mechanism whereby the basal magnesium-nucleotide-dependent stimulatory action of SUR1 on the Kir pore is elevated and blockade by sulfonylureas is preserved.
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“can be treated with high-dose sulfonylureas despite being insulin dependent also provide a compelling case for genetic evaluation of monogenic diabetes with therapeutic and prognostic implications ( 2 – 6 ).”
From β-Cell Failure in Type 2 Diabetes: Postulated Mechanisms and Prospects for Prevention and Treatment (2014) · cites this paper as [5]
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“Findings that neonatal diabetes is most commonly due to activating mutations in genes encoding the ATP-sensitive potassium channel subunits Kir6.2 or SUR1”
From β-Cell Failure in Type 2 Diabetes: Postulated Mechanisms and Prospects for Prevention and Treatment (2014) · cites this paper as [5]
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Metadata
- Authors
- Babenko, A. P., Polak, M., Cavé, H., Busiah, K., Czernichow, P., Scharfmann, R., Bryan, J., Aguilar-Bryan, L., Vaxillaire, M., & Froguel, P.
- Affiliations
- Baylor College of Medicine (US)
- Hôpital Necker-Enfants Malades (FR)
- Hôpital Robert-Debré (FR)
- Centre National de la Recherche Scientifique (FR)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2006-08-03
- Volume
- 355
- Issue
- 5
- Pages
- 456-466
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2155078339
- Cited by
- 655
- References
- 33
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 15 · 2023: 27 · 2022: 20 · 2021: 32 · 2020: 28 · 2019: 33 · 2018: 32 · 2017: 29 · 2016: 37 · 2015: 33 · 2014: 42 · 2013: 42 · 2012: 26
- FWCI
- 51.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- HAL (submittedVersion, other-oa)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK44311, DK52771, R01DK044311, R01DK052771)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- ABCC8, neonatal diabetes, SUR1, Kir6.2, ATP-sensitive potassium channels, activating mutations, missense mutations, open probability, type 2 diabetes
- MeSH terms
- Kcnj11 Channel, Birth Weight, Developmental Disabilities, Diabetes Mellitus, Female, Heterozygote, Humans, Hypoglycemic Agents, Infant, Newborn, Male, Pedigree, Receptors, Drug, Sulfonylurea Compounds, Tolbutamide, Potassium Channels, ATP-Binding Cassette Transporters, Mutation, Missense, Potassium Channels, Inwardly Rectifying, Diabetes Complications, Insulin-Secreting Cells, Sulfonylurea Receptors
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