Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease

Background Early-onset Parkinson's disease (EOPD) refers to that of patients who have been diagnosed or had onset of motor symptoms before age 50, accounting for 4% of Parkinson's disease patients. ThePRKNandPINK1genes, both involved in a metabolic pathway, are associated with EOPD. Methods To identify variants associated with EOPD, coding region ofPARKINandPINK1genes in 112 patients and 112 healthy individuals were sequenced. Multiplex ligation-dependent probe amplification kit was used to determine EOPD patients that carried mutations inPRKNandPINK1genes. Results and Conclusion Three rare and three novel mutations in total of 14 variants ofPARKINandPINK1were detected in the EOPD cohorts. Mutations ofPRKNandPINK1genes were found in five (4.4%) patients, which were four patients with compound heterozygous variants in thePRKNand one case with a homozygous mutation of thePINK1gene. The novel mutations might reduce the stability of the PRKN and PINK1 protein molecules. The frequency of homozygous mutant genotype p.A340T of thePINK1in the EOPD cohort was higher than in control (p = 0.0001, OR = 5.704), suggesting this variant might be a risk factor for EOPD. To the best of our knowledge, this is the first study ofPRKNandPINK1genes conducted on Vietnamese EOPD patients. These results might contribute to the genetic screening of EOPD in Vietnam.