ECE2007 Oral Communications Diabetes (7 abstracts)
Uncoupling protein 2 mutations – a new explanation for congenital hyperinsulinism?
Henrik Thybo Christesen 1 , Khalid Hussain 3 , Lone Svargo 2 , Bendt Brock Jacobsen 1 & Klaus Brusgaard 2
1HC Andersen Children’s Hospital, Odense, Denmark; 2Dept. of Clinical Genetics, Odense University Hospital, Odense, Denmark; 3London Center for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital, London, United Kingdom.
Background: Congenital Hyperinsulinism (CHI) is genetically unexplained today in up to 50% of the patients with persistent or recurrent disease. The uncoupling protein 2 (UCP2) gene is a candidate gene for medical-responsive CHI, since knock out studies have shown that UCP2 deficiency leads to increased glucose-stimulated insulin secretion.
Patients and methods: In a large series of 142 patients with transient, persistent or recurrent CHI, we examined for mutations using DHPLC and direct sequencing, or cutting with restriction enzyme for specific variations, in the known disease-causing genes ABCC8 (n=141), KCNJ11 (n=140), Gck (n=21), GLUD1 (n=27), SCHAD (n=10), and UCP2 (n=46), (number of investigated patients in brackets).
Results: In 53 of all patients (37%), a genetic explanation was found, while 90 patients had no mutations detected. Of these, 46 had persistent or recurrent medical-responsive hyperinsulinaemic hypoglycaemia and available DNA for UCP2 analysis. No mutations were found in UCP2. The well-known polymorphism A55V was seen in 29 patients.
Conclusion: UCP2 mutations are rarely – if ever – found in CHI patients with persistent or recurrent CHI. Other genetic explanations should be considered.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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