Modified Gene Transfer Approach Evaluated in Model of Brain Disease

• Autores: Tracy Hampton
• Localización: JAMA: the journal of the American Medical Association, ISSN 0098-7484, Vol. 315, Nº. 1, 2016, págs. 19-19
• Idioma: inglés
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• Resumen

  • 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.