PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson ’s disease

Publication date: 29 May 2018 Source:Neuroscience Letters, Volume 676 Author(s): Peng Wang, Yi Guo, Chengyuan Song, Yiming Liu, Hao Deng Parkinson’s disease (PD) features selective loss of dopaminergic neurons of the substantia nigra pars compacta accompanied by the accumulation and aggregation of alpha-synuclein in Lewy bodies. PTEN induced putative kinase 1 gene (PINK1) mutations are the second most common genetic cause of autosomal recessive early-onset Parkinson’s disease (EOPD). A single nucleotide deletion in PINK1 exon 8 (c.1557delG) was identified in a consanguineous Chinese family with EOPD. The homozygous deletion was co-segregated with disease in the family and resulted in a frameshift after codon 520 with a premature termination at codon 522 (p.K520RfsX3). These findings have significant implications on genetic counseling for the family and may be helpful in considering potential pathogenesis-targeted and disease-modifying strategies which should further improve patient quality of life.
Source: Neuroscience Letters - Category: Neuroscience Source Type: research