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A New Drug Target for Batten Disease

[Source: Medical News Today]
An antioxidant drug that alleviates cell death and extends lifespan in a mouse model of Batten disease – a devastating childhood neurodegenerative disorder – is reported online this week in Nature Neuroscience. These results indicate that drugs with similar properties can potentially be used to treat the disease, as well as other diseases caused by comparable deficiencies.
Infantile neuronal ceroid-lipofuscinosis (INCL), a severe form of Batten disease, is a neurodegenerative disease that develops early in childhood and causes blindness, loss of motor and mental function, and eventually leads to death. It is caused by mutations in the PPT1 gene, leading to dysfunctional lysosome organelles, which are important for breaking down cellular waste material. These mutations prevent the degradation of certain proteins by a lysosomal enzyme, and the resultant accumulation of these proteins in cells is toxic.
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