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Lab Reports
January 5, 2016

Modified Gene Transfer Approach Evaluated in Model of Brain Disease

JAMA. 2016;315(1):19. doi:10.1001/jama.2015.16891

Investigators at the Children’s Hospital of Philadelphia and their colleagues tested an alternative gene therapy application to delay symptoms and extend life span in a canine model of Batten disease, a fatal inherited neurodegenerative disorder (Katz ML et al. Sci Transl Med. 2015;7[313]:313ra180).

Most children with the late infantile form of Batten disease carry mutations in the gene that encodes tripeptidyl peptidase 1 (TPP1), a lysosomal enzyme that enables neurons to recycle cellular waste. Children may develop normally up to ages 2 to 4 years but subsequently experience motor deterioration, mental decline, seizures, and visual deficits, with death usually occurring within the first decade of life.

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