PDE8B mutation is not associated with Parkinson ’s disease in a Taiwanese Population

Mutations in the phosphodiesterase 8B gene (PDE8B) were recently linked to autosomal-dominant striatal degeneration clinically presenting as slowly progressive parkinsonism. PDE8B degrades cyclic AMP, a second messenger involved in dopamine signaling. Dopamine deficiency is the pathognomonic feature of Parkinson ’s disease (PD). Few studies have explored the role of PDE8B in PD. We aim to address the genetic contribution of PDE8B in early-onset and familial PD in a Taiwanese population. Among 642 participants, we sequenced the exon containing previously reported mutations and exon-intron boundaries of PDE 8B in 196 PD pedigrees without known PD-causative gene mutations, 207 patients with early-onset PD (age of onset

Source: Neurobiology of Aging - May 25, 2018 Category: Neuroscience Authors: Tian-Sin Fan, Ruey-Meei Wu, Hang-I. Lin, Chieh Cheng, Chin-Hsien Lin Tags: Negative results Source Type: research