PDE8B mutation is not associated with Parkinson's disease in a Taiwanese population

Abstract

Mutations in the phosphodiesterase 8B gene (PDE8B) were recently linked to autosomal-dominant striatal degeneration clinically presenting as slowly progressive parkinsonism. PDE8B degrades cyclic adenosine monophosphate (cAMP), 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 PDE8B in 196 PD pedigrees without known PD-causative gene mutations, 207 patients with early-onset PD (age of onset <50 years), and 239 ethnicity-matched controls. We did not find any coding variants or previously reported mutations, suggesting that PDE8B mutations are not a common cause of familial or early-onset PD in this Taiwanese population.

Keywords: Cyclic nucleotide phosphodiesterase 8B; PDE8B; Parkinson's disease; Striatal degeneration; cAMP.