Monica Bañez-Coronel, Fatma Ayhan, Alex D Tarabochia, Tao Zu, Barbara A Perez, Solaleh Khoramian Tusi, Olga Pletnikova, David R Borchelt, Christopher A Ross, Russell L Margolis, Anthony T Yachnis, Juan C Troncoso, Laura P W Ranum
Huntington disease (HD) is caused by a CAG ⋅ CTG expansion in the huntingtin (HTT) gene. While most research has focused on the HTT polyGln-expansion protein, we demonstrate that four additional, novel, homopolymeric expansion proteins (polyAla, polySer, polyLeu, and polyCys) accumulate in HD human brains. These sense and antisense repeat-associated non-ATG (RAN) translation proteins accumulate most abundantly in brain regions with neuronal loss, microglial activation and apoptosis, including caudate/putamen, white matter, and, in juvenile-onset cases, also the cerebellum...
November 18, 2015: Neuron