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Genetic mutations associated with mitral valve disorder

Mitral valve prolapse (MVP) is one of the most widespread heart disorders. European scientists attempted to identify genetic factors involved in the development of this disease.
Genetic mutations associated with mitral valve disorder
The mitral valve (MV) controls blood flow between the left atrium and the left ventricle in the heart. A normal MV only allows blood to flow from the left atrium into the left ventricle but not vice versa.

In MVP, when the left ventricle contracts, one or both flaps of the MV flop or bulge back (prolapse) into the left atrium. This prevents the valve from forming a tight seal allowing blood to leak from the ventricle back into the atrium. Such backflow raises the risk of heart valve infections and in some cases patients may require surgery to repair or replace the MV.

Previous genetic studies have shown that some forms of MVP are caused by mutations in filamin A as well as in two additional genetic loci, MMVP2 and MMVP3, on chromosomes 11 and 13. The goal of the EU-funded MVP-GEN (Genetics of mitral valve prolapse) project was to identify genes that are involved in the development of MVP. Their objective was to find MVP-causing mutations in families and segregate the disease through whole-genome family-based linkage analysis, positional cloning and parallel sequencing.

The MVP-GEN project established a database and genetic bank of families for segregating MVP mutations. Researchers have allocated 19 MVP segregating families. Genetic material sets of two families were genotyped and a total of three potential mutations segregating with MVP in these families were found.

Even after the end of the project, researchers are working on the validation of identified gene mutations. Project findings could optimise clinical management of this disease and facilitate early diagnosis.

Related information


Genetic mutation, mitral valve prolapse, filamin A, MVP-GEN, whole-genome family-based linkage analysis
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