The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
Open accessAbstract
ATP-sensitive potassium channels play a major role in linking metabolic signals to the exocytosis of insulin in the pancreatic beta cell. These channels consist of two types of protein subunit: the sulfonylurea receptor SUR1 and the inward rectifying potassium channel Kir6.2. Mutations in the genes encoding these proteins are the most common cause of congenital hyperinsulinism (CHI). Since 1973, we have followed up 38 pediatric CHI patients in Finland. We reported previously that a loss-of-function mutation in SUR1 (V187D) is responsible for CHI of the most severe cases. We have now identified a missense mutation, E1506K, within the second nucleotide binding fold of SUR1, found heterozygous in seven related patients with CHI and in their mothers. All patients have a mild form of CHI that usually can be managed by long-term diazoxide treatment. This clinical finding is in agreement with the results of heterologous coexpression studies of recombinant Kir6.2 and SUR1 carrying the E1506K mutation. Mutant K(ATP) channels were insensitive to metabolic inhibition, but a partial response to diazoxide was retained. Five of the six mothers, two of whom suffered from hypoglycemia in infancy, have developed gestational or permanent diabetes. Linkage and haplotype analysis supported a dominant pattern of inheritance in a large pedigree. In conclusion, we describe the first dominantly inherited SUR1 mutation that causes CHI in early life and predisposes to later insulin deficiency.
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Cites
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Cited by
Inwardly Rectifying Potassium Channels: Their Structure, Function, and Physiological Roles
Hibino, H., Inanobe, A., Furutani, K., Murakami, S., Findlay, I., & Kurachi, Y. (2010) · Physiological Reviews · doi:10.1152/physrev.00021.2009 · Cited by 1,539
ATP-sensitive potassium channelopathies: focus on insulin secretion
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Self-citationHyperinsulinism in Infancy: From Basic Science to Clinical Disease
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Sulphonylurea action revisited: the post-cloning era
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Self-citationClinical and molecular characterisation of 300 patients with congenital hyperinsulinism
Kapoor, R. R., Flanagan, S. E., Arya, V. B., Shield, J. P., Ellard, S., & Hussain, K. (2013) · European Journal of Endocrinology · doi:10.1530/eje-12-0673 · Cited by 243
“The phenotype associated with these dominantly inherited mutations confirms the reported phenotype associated with dominant mutations in the NBD2 area (13, 43); however, dominant CHI mutations also occur outside the NBD2 (44).”
Metadata
- Authors
- Huopio, H., Reimann, F., Ashfield, R., Komulainen, J., Lenko, H.-L., Rahier, J., Vauhkonen, I., Kere, J., Laakso, M., Ashcroft, F., & Otonkoski, T.
- Venue
- Journal of Clinical Investigation
- Published
- 2000-10-01
- Volume
- 106
- Issue
- 7
- Pages
- 897-906
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W1977796924
- Cited by
- 276
- References
- 41
- FWCI
- 9.22
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Huopio, H., Reimann, F., Ashfield, R., Komulainen, J., Lenko, H.-L., Rahier, J., Vauhkonen, I., Kere, J., Laakso, M., Ashcroft, F., & Otonkoski, T. (2000). Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. Journal of Clinical Investigation. https://doi.org/10.1172/jci9804
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