Product name

Novel marker and target for chronic heart disease from Ascenion

Summary

knock-down of secreted glycoprotein in zebrafish results in highly abnormal electro-physiological parameters

Organization name

Ascenion GmbH

Profile

Challenge

Heart failure is a serious condition affecting more than 5 million Americans and 10 million Europeans and is the leading cause of hospitalization in people older than 65. Sudden cardiac death (SCD) as a result of arrhythmias is one of the most prominent causes of death in industrialized countries. Mendelian cardiomyopathies and arrhythmias are highly genetically heterogenous. In patients with a confirmed clinical diagnoses, current genetic knowledge allows the identification of disease causing mutations in about 8% of DCM cases, 30% of ARVC cases, 50% of HCM cases, 70% of LQT cases, 5% of diLQT cases and about 15% of Brugada Syndrome cases.

Technology

The novel marker for heart diseases was identified by quantitative trait locus (QTL) analysis of more than 700 patients with arrhythmias and heart failure resulting in the identification of 12 non-synonymous mutations. About 2% of the analysed patients showed mutations in this gene.

The phenotype was confirmed by knock-down experiments in zebrafish resulting in highly abnormal electro-physiological parameters. The generation of mouse models is in progress to confirm the observed zebrafish results and to demonstrate clinical relevance. This novel marker is a secreted glycpoprotein.

In addition to diagnostic applications (genetic testing, ELISA) this might also provide new therapeutic avenues for the treatment of affected patients.

Commercial Opportunity

In-licensing or collaboration partnership for further development.

Patent Situation

US patent application was filed.

Contact

Ascenion
Dr. Sigrid Scheek
scheek(at)ascenion.de    

About Ascenion

Ascenion is the exclusive partner of 12 life-science institutes in the Helmholtz and Leibniz Associations and of one Medical School, and coordinates technology transfer for the German National Genome Research Network. They currently market around 600 technologies, together with a varied range of research materials, e.g. antibodies, animal models and vectors. 

Description File

 Novel_marker_for_chronic_heart_disease.pdf

URL

www.ascenion.de

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