https://www.bwhparkinsoncenter.org/wp-content/uploads/2020/07/Figure-2_short-form_RevCRS_PR_square.png 886 887 Academic Web Pages https://www.bwhparkinsoncenter.org/wp-content/uploads/2019/10/CAPR-black-Neue-grotesk-2LineLLogoCAPR10252019TEST.svg Academic Web Pages2020-07-22 13:49:542022-12-26 21:37:03GBA-Parkinson: The type of mutation regulates enzyme function
GBA-Parkinson: The type of mutation regulates enzyme function
10.3% of “sporadic” Parkinson’s patients carry one copy out of a myriad of distinct GBA mutations. The type of GBA mutation found in a patient modulates the clinical course, but the biochemical mechanism is unclear. In an article published in Neurology in the August, 2020 edition, a team of investigators led by Clemens Scherzer from the Center for Advanced Parkinson Research and Pablo Sardi of Sanofi showed for the first time a linear correlation between increasing prognostic severity of GBA mutations and decreasing activity of the GCase enzyme encoded by the GBA gene in patient blood. This suggests that GCase activity can serve as quantitative target and biomarker for clinical trials.