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A method of treating severe congenital myopathy

 Last Update: 2022-04-23
 Source: Internet
 Author: User

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Professor Susan Treves remembers seeing a 6-month-old child with the disease

The affected genes contain the blueprint for a calcium channel called RYR1 in skeletal muscle

genetic material overload

This therapy is based on the observation that certain enzymes are overproduced in the patient's skeletal muscle

Treves and her team used inhibitors of these enzymes, already approved as cancer drugs or in clinical trials

From gene to therapy

This approach is still a long way from a clinically applicable treatment, Treves said

For Susan Treves and Francesco Zorzato, these first promising results represent a landmark victory after more than 10 years of research -- especially since Zorzato was the first to isolate a gene that affects these muscle diseases a few years ago people

Journal Reference :

Alexis Ruiz, Sofia Benucci, Urs Duthaler, Christoph Bachmann, Martina Franchini, Faiza Noreen, Laura Pietrangelo, Feliciano Protasi, Susan Treves, Francesco Zorzato.

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