Cure CMD Co-Funds SEPN1 Research Project with AFM


Cure CMD (Congenital Muscular Dystrophy) is eager to announce a co-funded grant, in partnership with AFM-Téléthon, for Dr. Esther Zito’s research project, “Ablation of the Maladaptive ER-Stress Response to Improve Altered Calcium-Handling and Restore Diaphragm Function in SELENON Knock-Out Mice.” Cure CMD and AFM-Téléthon will award Dr. Zito $60,000 over two years. This is the second research project focused on SEPN1-CMD that Cure CMD is funding in 2018.

Dr. Zito’s project is a “proof of principle” that removing or blocking specific enzymes which causes pathogenic oxidative stress and calcium leakage will restore the needed intramuscular calcium regulation for the normal contraction-relaxation cycle of the diaphragm and other skeletal muscles. Success will provide novel therapeutic targets for SEPN1 affected individuals.

Dr. Zito directs the Laboratory of Signal Transduction at the Mario Negri Institute for Pharmacological Research in Milano, Italy. She has had noteworthy projects at New York University and Cambridge University, and worked at Italy’s Dulbecco Telethon Institute where she studied pharmaceutical cures for congenital myopathies.

“Recent discoveries by Dr Zito’s group made a major impact and is having a transformative effect in how we understand the deleterious consequences of SEPN1 mutations in skeletal muscles,” says Dr. Gustavo Dziewczapolski, Cure CMD Scientific Director. “SEPN1 is likely involved in protecting muscle cells against oxidative stress as well as playing a key role in the tight regulation of calcium storage and release needed for functional muscle contractions. In consequence, SEPN1 mutations alter calcium homeostasis and triggers maladaptive cellular stress responses. This grant will help Dr. Zito generate a unique animal model to test the hypothesis that blocking specific components of this maladaptive response will improve muscle health. I’m excited with the potential to uncover novel therapeutic targets for treatment development for SEPN1-CMD .”

Learn about all of Cure CMD’s research grants.

CURE CMD

Cure CMD was founded in 2008 to advance research for treatments and a cure for congenital muscular dystrophy (CMD) and, through engagement and support of the CMD community, to also improve the lives of those living with CMD. To date, the organization has funded more than $2 million in research, launched an international patient registry with more than 2,800 registrants, assisted with genetic diagnosis, and connected more than 2,000 affected individuals and their families to a supportive, helpful community.

AFM-Téléthon

L’AFM-Téléthon is an association of patients and their relatives, committed to fighting disease. Thanks to donations from the Téléthon, it has become a major player in biomedical research into rare diseases in France and across the world. Today, it supports clinical trials testing treatments for genetic diseases of the eyes, blood, brain, immune system and muscles. It is unlike other associations in that its laboratories have the ability to design, produce and test their own innovative therapies.


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