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SPECIALITY
Repurposed ALS drug shows
promise in mouse model of
rare childhood genetic disorder
iluzole, a drug approved to the Ara Parseghian Medical In the current study, mice with
treat amyotrophic lateral Research Foundation. NPC1 survived 12% longer when
Rsclerosis (ALS), a disease treated with riluzole, compared to
affecting nerve cells controlling NPC1 results from an impaired untreated mice. The researchers
movement, could slow the gradual ability to move cholesterol believe that riluzole or similar drugs
loss of a particular brain cell that through cells, leading to difficulty may provide a way to slow disease
occurs in Niemann-Pick disease controlling movements, liver and progression in patients with NPC1.
type C1 (NPC1), a rare genetic lung disease, impaired swallowing,
disorder affecting children and intellectual decline and death. Story Source:
adolescents, suggests a study in Much of the movement difficulties Materials provided by NIH/Eunice
mice by scientists at the National in NPC1 result from gradual loss Kennedy Shriver National Institute
Institutes of Health. of brain cells known as Purkinje of Child Health and Human
neurons. The researchers found Development. Note: Content may be
The study was conducted by that mice with a form of NPC1 edited for style and length.
Forbes D. Porter, M.D., Ph.D., of have a diminished ability to lower
NIH’s Eunice Kennedy Shriver levels of glutamate -- a brain Journal Reference:
National Institute of Child Health chemical that stimulates neurons 1. Antony Cougnoux, Julia C.
and Human Development -- after it has bound to a neuron’s Yerger, Mason Fellmeth, Jenny
(NICHD), and colleagues in surface. High levels of glutamate Serra-Vinardell, Fatemeh Navid,
the National Human Genome can be toxic to cells. The Christopher A. Wassif, Niamh X.
Research Institute and National researchers believe the buildup Cawley, Forbes D. Porter. Reduction
Institute of Arthritis and of glutamate contributes to the of glutamate neurotoxicity: A novel
Musculoskeletal and Skin Disease. brain cell loss seen in the disease. therapeutic approach for Niemann-
It appears in Molecular Genetics Riluzole blocks the release of Pick disease, type C1. Molecular
and Metabolism. The study was glutamate and hence delays the Genetics and Metabolism, 2021;
supported in part by a grant from progression of ALS in people. DOI: 10.1016/j.ymgme.2021.11.008
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