ABSTRACT
Objective@#To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.@*Methods@#Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.@*Results@#A homozygous missense variation (c.56C>G, p. Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c. 56C>G variation to be pathogenic.@*Conclusion@#Homozygous c. 56C>G variation of the PARK7 gene was the disease-causing variation in this family.
ABSTRACT
Oxidative stress is implicated in the pathogenesis and progression of various diseases as well as in the natural aging process. DJ-1/PARK7 gene encodes DJ-1 protein, which participates in malignant transformation, sperm maturation and fertilization, cell proliferation promotion, and anti-oxidative stress. The anti-oxidative stress effect of DJ-1 has been drawing increasing attention in recent years. There have been related in vitro, in vivo and clinical studies. The main mechanisms of its anti-oxidation effects included modifying configuration, playing the role of molecular chaperones, protecting the mitochondrial function, and regulating anti-apoptosis genes and antioxidant-related genes. Further research on DJ-1 may provide a new strategy for the prevention and treatment of oxidative stress-related diseases.