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Clues to finding further causes for monogenic diabetes
Date:9/21/2011

This release is available in Spanish.

In most cases of diabetes, various genes and environmental factors are involved. Not in monogenic diabetes, where the causes are mutations in just a single gene. Between 25 % and 45 % of family members or patients with monogenic diabetes do not present alterations in any of the genes that have been put forward to date as possible causes, and so new candidate genes have had to be identified. Biochemist Ms Intza Garin has made advances in this direction, in a thesis defended at the University of the Basque Country (UPV/EHU) and entitled The search for new genes involved in monogenic diabetes. The research by her work team has also been reflected in publications such as The Journal of Clinical Endocrinology & Metabolism, in December 2010.

Monogenic diabetes is considered a rare disease, making up only 1 % to 3 % of all cases of diabetes. There are two types: neonatal and Maturity Onset Diabetes of the Young (MODY). In most cases, it is a hereditary disease that appears when one of the parents passes on the mutation in one of their genes to their offspring, although there are also cases in which such a mutation is generated spontaneously. Ms Garin believes that these alterations may be produced in genes that have not been associated with this type of diabetes to date. Thus, she set out to identify hitherto unknown causes to the disease by studying affected families and patients.

Chromosome 8 and more clues

Ms Garin carried out an analysis of the complete genome, while not prove useful in determining which new genes might be responsible for monogenic diabetes, was able to throw light on chromosome 8. Although the search for mutations here did not conclude with the discovery of a causal genetic variant, the data obtained confirm that the 8p12-p11 region of this chromosome is a
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Contact: Amaia Portugal
a.portugal@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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