Cited by 658Pancreatic function and diabetesIon channel regulation and functionDiabetes and associated disorders

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Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus

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Babenko, Andrey P., Polak, Michel, Cavé, Hélène, Busiah, Kanetee, Czernichow, Paul, Scharfmann, Raphael, Bryan, Joseph, Aguilar-Bryan, Lydia, Vaxillaire, Martine, Froguel, Philippe·2006·New England Journal of Medicine

DOI 10.1056/nejmoa055068

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Abstract

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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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)
ORCID: Polak, Michel
Cavé, Hélène
Busiah, Kanetee
Bryan, Joseph
Vaxillaire, Martine
Froguel, Philippe
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
DOI: 10.1056/nejmoa055068
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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Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus

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