Scientists probe diabetes in Slovaks

[Northerner]

Monogenic diabetes is triggered by mutations of a small number of genes, resulting in disrupted insulin production. Around half of the patients suffering from monogenic diabetes seem to carry a mutation in the glucokinase (GCK) gene. To date, more than 600 GCK mutations have surfaced, and around 65% of these are missense, what experts define as a genetic change resulting in the substitution of one amino acid in a protein for another. Researchers in Slovakia and the United Kingdom have identified the minimum prevalence of GCK-monogenic diabetes among Slovaks. They sequenced GCK in 100 Slovaks with a phenotype consistent with GCK-monogenic diabetes. The team also investigated, through family and functional studies, how identified variants can cause disease. Presented in the journal PLoS ONE, the study was backed by the CEED3 ('Collaborative European effort to develop diabetes diagnostics') project, which has clinched EUR 3 million under the Health Theme of the EU's Seventh Framework Programme (FP7).

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