title: Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients.
abstract: Recent discovery of pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene in Parkinson's disease (PD) patients in different ethnic groups have raised a hope of diagnostic screening and genetic counseling. We investigated the six most commonly reported mutations in LRRK2 gene among Indian PD patients, using PCR-RFLP method. Mutations G2019S, R1441C, R1441G, and R1441H were screened in 1012 individuals (PD, 800; controls, 212) while mutations I2012T and I2020T were screened in 748 PD patients. We did not observe any of these six mutations in this study sample except in a single female young onset PD patient who showed a heterozygous G2019S mutation. The absence of mutations was reconfirmed by sequencing of probands from several autosomal dominant PD families. Our observations suggest that these mutations may be a rare cause of PD among Indians and therefore of little help for diagnostic screening and genetic counseling for Indian PD patients.
authors.affiliation: Department of Genetics, University of Delhi South Campus, Benito Juarez Road, New Delhi 21, India.
authors.forename: Sohan
authors.initials: S
authors.lastname: Punia
authors.forename: Madhuri
authors.initials: M
authors.lastname: Behari
authors.forename: Shyla T
authors.initials: ST
authors.lastname: Govindappa
authors.forename: Pazhayannur V
authors.initials: PV
authors.lastname: Swaminath
authors.forename: Sachi
authors.initials: S
authors.lastname: Jayaram
authors.forename: Vinay
authors.initials: V
authors.lastname: Goyal
authors.forename: Uday B
authors.initials: UB
authors.lastname: Muthane
authors.forename: R C
authors.initials: RC
authors.lastname: Juyal
authors.forename: B K
authors.initials: BK
authors.lastname: Thelma
mesh_terms: D000328:Adult; D000483:Alleles; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007194:India / Q000453:epidemiology; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D009154:Mutation / Q000502:physiology*; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases