Mitochondrial Respiratory Chain Enzymatic Activities on Skin Fibroblasts in Patients With Mutant Glucocerebrosidase and PARK2 Genes

摘要

Background: Impairments of mitochondrial respiratory chain have been observed in skin fibroblast of patients with sporadic Parkinson’s disease (PD) and PARK2 mutations. This study assesses enzymatic activity of mitochondrial respiratory chain in skin fibroblasts of Thai PD patients with glucocerebrosidase (GBA) and PARK2 mutations.Methods: Skin fibroblasts were obtained from 14 individuals including four mutant GBA alleles, three mutant PARK2 alleles, and seven PD patients without mutations. Five age-matched healthy controls were recruited. Activities of complex I - V were assessed using enzyme-linked immunosorbent assay, and normalized with citrate synthase activity. All measurements were performed in triplicate.Results: Complex V activity seemed to be lower in PD patients than controls. Among patients, activities of complexes I, II, IV and V seemed to be lower in the mutant group than those without mutation. Among patients with mutations, the mutant GBA group showed slightly lower activities of complexes II, IV, and V than the mutant PARK2 group.Conclusions: A skin fibroblast culture may be a useful tool to investigate how GBA mutation leads to impairment of the energetic metabolism in patients with PD.J Neurol Res. 2016;6(1):12-17doi: http://dx.doi.org/10.14740/jnr375w