Great Day, Great News! Our paper about Nexilin got accepted!



Our work is not only about identifying new mechanisms and unravel the genetics of a disease, but also about sharing the results with the scientific community. Publishing an article is the cherry on the top, the reward for years of work. Hence, after wrapping up the results and submitting it as a paper to a journal, the nerve-racking waiting begins. The waiting and hoping for an e-mail with the word "accepted". This is what we got today:

I am pleased to inform you that your manuscript BRIC-D-15-00013R2 entitled "Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis" is accepted for publication in Basic Research in Cardiology and will be forwarded to the publisher today. Thank you for submitting your work to Basic Research in Cardiology“.

Dilated cardiomyopathy (DCM) is a leading cause of heart failure. Recently, we identified mutations in nexilin (NEXN) as a cause for DCM. We reported that loss of Nexn in zebrafish leads to impaired cardiac contractile function with instability of the Z-disk and subsequent cardiac dilatation. 

The functional role of this gene in mammalians cardiomyopathy remains unclear. For this reason we generated mice deficient for Nexn and started characterizing these mice for cardiovascular disorders.

In brief, we were able to confirm the effect of Nexilin in DCM. In addition, we also demonstrated that Nexilin is involved in endocardialfibroelastosis (EFE), a rare heart disorder. The genetic basis of EFE is not known, but it seems to be a so far unrecognised cause or characteristic of a DCM subtype. Here, we present a mouse model that may be used to better understand the pathogenesis of this underestimated fatal postnatal disorder and to clarify whether it is a form of DCM.

This work would not have been possible without the help of all our co-authors. Hence, we would like to take the opportunity to thank all of them also here in this blog.

Jeanette, Stephanie and Zouhair

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