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New fast and cheaper testing finds more gene mutations

New fast and cheaper testing finds more gene mutations

New faster and cheaper gene testing for cardiomyopathy has brought up a large number of new gene mutations that may have implications for people with hypertrophic cardiomyopathy (HCM)

Interpreting what the new mutations mean in the clinical care of patients with HCM is challenging, said the study from the UCL Institute of Cardiovascular Science in London.

A group of leading experts in cardiomyopathy, including Professor William McKenna and Professor Perry Elliott from the London Heart Hospital, looked at whether high throughput DNA sequencing - the new highly sophisticated method of looking for gene mutations - could be beneficial in discovering more about the genetic causes of HCM.

In the study of 223 unrelated patients with the disease, the researchers looked at the strength of the evidence to the extent to which variant genes contributed to cardiomyopathy.  More suspect variants were found in desmosomal genes (normally implicated in arrhythmogenic right ventricular cardiomyopathy) and ion channel genes (implicated in long QT syndrome). But just how many were disease causing was more complex.  As the report's authors explain, clinical interpretation of genetic variants is not easy as their effects on gene function are uncertain.  And studies of new variants are expensive and time consuming. 

As in previous studies, this new research found that between 50 to  60 per cent of the group had mutations in one of eight sarcomere protein genes (responsible for heart contraction). The study highlighted the need for more research to be carried out on the new findings.

by CMA Manager on 01-Mar-13 14:31

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The Cardiomyopathy Association's Registered Charity Number is 803262.
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