PARK2 gene mutations in early onset Parkinson's disease patients of South India

• Published in: Neuroscience letters 2012-08, Vol.523 (2), p.145-147
• Main Authors: Padmaja, M. Vishwanathan, Jayaraman, Meenakshi, Srinivasan, Avathvadi Venkatesan, Srisailapathy, C.R. Srikumari, Ramesh, Arabandi
• Format: Article
• Language: English
• Subjects: Adult; Age; Age of Onset; Coding; Early onset; Environmental factors; Ethnic groups; Etiology; Exons; Female; Genetic Association Studies; Genetic Predisposition to Disease; Humans; India; Insertion; Male; Middle Aged; Movement disorders; Mutation; Nervous system; Neurodegenerative diseases; PARK2; Parkinson Disease - ethnology; Parkinson Disease - genetics; Parkinson's disease; Point mutation; South Indian PD patients; Ubiquitin-Protein Ligases - genetics
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/j.neulet.2012.06.062

► PARK2 mutations were analyzed in early onset PD patients. ► 68% of patients had sequence variations. ► A novel insertion mutation, c.798_799insA in exon 7 of PARK2 observed. ► Four sequence variants c.1239G>C, c.171+25T>C, c.202A>G, c.601G>A were observed. With the etiology being unclear till date, a combination of age, genetic and environmental factors are known to play a significant role in the pathogenesis of Parkinson's disease. Mutations in PARK2 gene have been implicated to cause autosomal recessive early onset PD. We analyzed the 12 coding exons of PARK2 gene in 16 early onset PD patients of South Indian ethnicity. PARK2 mutations were present in 68% of the early onset cases. We report the presence of four PARK2 sequence variants c.1239G>C, c.171+25T>C, c.202A>G, c.601G>A, and a novel insertion mutation, c.798_799insA in the exon 7 of PARK2 gene. These results suggest that mutations in PARK2 gene may be a common cause of PD among South Indian early onset patients.