Thursday, April 18, 2024

Calling Jerry Lewis – Scientists Report Understanding Niemann Pick Type C Could Lead To Treatments For Duchenne Muscular Dystrophy

There are new reasons for hope not only for families of Niemann Pick Type C kids but for families with children suffering from Duchenne muscular dystrophy, a fatal recessive X-linked form of muscular dystrophy that strikes 1 in 3500 boys and leads to paralysis and ultimately death.

According to a research paper released from the University of Washington, understanding the mechanism of Niemann Pick Type C (NPC), a fatal progressive neurodegenerative disease that is trying to take the lives of Addi & Cassi could help researchers find new treatments for Duchenne Muscular Dystrophy (DMD) and possibly muscular dystrophy in general.
Picture of Jerry Lewis
In the studies conducted by the University of Washington, “transgenic expression of Neimann Pick Type C 1 (NPC1) in skeletal muscle ameliorates muscular dystrophy in the Dtna-/- mouse (which has a relatively mild dystrophic phenotype) and in the mdx mouse, a model for DMD. These results identify a new compensatory gene for muscular dystrophy and reveal a potential new therapeutic target for DMD.”

In addition, the researchers report that “molecular abnormalities in NPC1-null cells suggest possible links to known causes of muscle degeneration. One particularly intriguing connection involves the caveolins. Caveolin-3, the muscle-specific form, binds directly to the dystrophin complex members, β-dystroglycan at the sarcolemma and is required for the correct targeting of the dystrophin complex to cholesterol-sphingolipid rafts/caveolae. A link between caveolin-3 regulation and the muscular dystrophies is well established. Muscles from Duchenne muscular dystrophy patients and mdx mouse muscles have elevated caveolin-3 levels.”

The Muscular Dystrophy Association (MDA) through the help of Jerry Lewis has raise approximately $2 billion for neuromuscular patient care and research since its inception yet a cure has not been found to date.  This paper suggests that new therapies could be found for muscular dystrophy by looking at the NPC1 gene, a gene that causes a rare and fatal childhood disease that strikes only 500 children worldwide.   Does anyone have Jerry Lewis’ number?

Posted by Chris (MOM – Mom On a Mission)


6 Responses to “Calling Jerry Lewis – Scientists Report Understanding Niemann Pick Type C Could Lead To Treatments For Duchenne Muscular Dystrophy”
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  3. Wallace says:


  4. Chris–I just saw your blog from a few months ago about the link between Niemann Pick and muscular dystrophy. Before I moved to Parent Project Muscular Dystrophy I was with MDA for 11 years and headed the drug development program there. Before I left I did help to set up some calls to facilitate a link between the Niemann Pick investigators and muscular dystrophy investigators. The idea was that we could potentially share the costs of developing any interesting candidates that arise from planned drug screens. Hopefully that’s all moving through channels!

    Sharon Hesterlee, Ph.D.
    Sr Director Research and Advocacy
    Parent Project Muscular Dystrophy


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