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Towards a better understanding of heart disease at the root of myotonic dystrophy

Alternative splicing model of the cardiac sodium channel (SCN5A) in a myotonic dystrophy.

April 11, 2016

The team of Nicolas Charlet-Berguerand (CNRS, Inserm and University of Strasbourg) part of an international collaboration (France, Germany, USA and Japan) lift the veil on the molecular mechanisms behind heart defects in the genetic disease, myotonic dystrophy. An illness that affects a person over 8 000. This new study published in Nature Communications on April 11 2016 could help find a treatment.

 

Myotonic dystrophy, also known as Steinert’s Disease, is the most common adult form of muscular dystrophy. Patients with this genetic disorder suffer from a weakening of skeletal muscles but also arrhythmia and cardiac disorders. This is a particularly invalidating disease for which there is currently no treatment.

 

The mice take over to better understand this disease

 

Myotonic dystrophy is caused by a mutation resulting in the expression of RNA having long repetitions of the CUG trinucleotides. These mutated RNAs accumulate in nuclear clusters which alter the regulation of alternative splicing(1). However, despite the importance of the work already done on this disease, many issues remain to be elucidated. In particular, the causes of arrhythmias and cardiac disorders, which represent the second cause of death in this disease are still unknown.

 

In a collaborative study funded by the French Association against Myopathies (AFM), the European Research Council (ERC), the European E-Rare program (ANR), Inserm and the Labex INRT (ANR) researchers identified new splicing alterations in samples of heart patients. Among these alterations, biologists have established that those affecting the cardiac sodium channel (SCN5A) mRNA, were fundamental to understanding heart disease in these patients.

 

In a collaborative study funded by the French Association against Myopathies (AFM), the European Research Council (ERC), the European E-Rare program (ANR), Inserm and the Labex INRT (ANR) researchers identified new splicing alterations in samples of heart patients. Among these alterations, biologists have established that those affecting the cardiac sodium channel (SCN5A) mRNA, were fundamental to understanding heart disease in these patients.

 

Scientists then deciphered the molecular mechanisms leading to the alteration of SCN5A in these patients. A collaboration with the team of Dr. Furling, of the Institute of Myology in Paris, allowed the reproduction of these cardiac alterations in a mouse model. This breakthrough will give new impetus to research on this rare disease.

 

(1) Alternative splicing: in eukaryotes, it is a process by which RNA transcribed from a gene may undergo various steps of cleavage and ligation leading to the elimination of various regions in a regulated manner and allowing the production of proteins having different properties.

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