AI Article Synopsis
- Recent studies identified mutations in the PTRHD1 gene linked to juvenile parkinsonism and intellectual disability in Iranian and African families, but their role in young-onset Parkinson's disease (PD) is still uncertain.
- The researchers conducted a study with 464 participants, focusing on young-onset PD and familial cases, to investigate the presence of PTRHD1 mutations.
- Their analysis revealed no pathogenic coding variants or previously identified mutations in the PTRHD1 gene among the Taiwanese cohort, indicating that these mutations are likely rare in this population for young-onset and familial PD.
Article Abstract
Mutations in the peptidyl-tRNA hydrolase domain containing 1 (PTRHD1) gene have been recently identified in consanguineous Iranian and African families with juvenile parkinsonism and intellectual disability. However, the pathogenicity of PTRHD1 mutations in the disease and their role in young-onset Parkinson's disease (PD) remains unclear. We aimed to investigate PTRHD1 mutations in a Taiwanese cohort with young-onset and familial PD. We enrolled 464 participants, including 178 probands from PD pedigrees without known PD-causative gene mutations and 286 patients with young-onset PD (age of onset <50 years). All exons and exon-intron boundary junctions of PTRHD1 were analyzed by Sanger sequencing. We did not find any pathogenic coding variants or previously reported mutations, suggesting that PTRHD1 mutations are rare in young-onset and familial PD in our population.
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| http://dx.doi.org/10.1016/j.neurobiolaging.2020.09.002 | DOI Listing |
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