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UCP2-associated hyperinsulinism
Tuesday 26 January 2010
Physiopathology
UCP2 (mitochondrial uncoupling protein 2) mutations encoding amino acid changes were reported in two unrelated children with congenital HI in whom no mutation in known HI-causing genes were identified.
The onset was neonatal, and the hypoglycemia diazoxide-sensitive.
UCP2 induces a regulated leak of protons across the inner mitochondrial membrane and uncouples mitochondrial oxidative metabolism from ATP synthesis.
ATP cell content decreases and insulin secretion as well. UCP2 over-expression in rat isolated pancreatic islet cells decreased ATP content and inhibited glucose-stimulated insulin secretion.
UCP2 knockout mice exhibit hyperinsulinemic hypoglycemia.
See also
congenital hyperinsulinism (CHI)
References
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. González-Barroso MM, Giurgea I, Bouillaud F, Anedda A, Bellanné-Chantelot C, Hubert L, de Keyzer Y, de Lonlay P, Ricquier D. PLoS One. 2008;3(12):e3850. PMID: 19065272