TY - JOUR
T1 - Molecular pathogenesis of Parkinson's disease
T2 - Identification of mutations in the Parkin gene in Indian patients
AU - Biswas, Arindam
AU - Gupta, Arnab
AU - Naiya, Tufan
AU - Das, Gautami
AU - Neogi, Rajarshi
AU - Datta, Somnath
AU - Mukherjee, Subhas
AU - Das, Shyamal K.
AU - Ray, Kunal
AU - Ray, Jharna
N1 - Funding Information:
The authors are thankful to the patients for participating in the study. The study has been supported by a grant from Council of Scientific and Industrial Research (CSIR), Government of India (to J.R.) and a CSIR project CMM-0016 (to K.R.). The authors are grateful to Prof. T.N. Roy for supporting the collaboration between BIN and University of Calcutta, Kolkata, West Bengal.
Copyright:
Copyright 2011 Elsevier B.V., All rights reserved.
PY - 2006/10
Y1 - 2006/10
N2 - Parkinson's disease (PD), the second most common neurodegenerative disorder, affects at least 1% of the population over the age of 50. However, very little information is available regarding the molecular basis of PD among Indians. Since the largest number of mutations have been detected in the Parkin gene among all known PD loci, we aim to use Parkin as the candidate gene to assess its role in PD-related pathogenesis in Indian patients. A total of 138 PD patients, with the mean age of onset being 47±14 (age range, 5-77 years), and 100 controls were recruited for the study from eastern India. Parkin mutations were detected by amplification of exons of the gene along with the flanking splice junctions by polymerase chain reaction, single-stranded conformation polymorphism and DNA sequencing. A total of 18 nucleotide variants including six novel changes were detected. These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD. Clinical features of the Parkin mutants were compared. Among eastern Indian PD patients, mutation in Parkin was identified in 7.24% cases.
AB - Parkinson's disease (PD), the second most common neurodegenerative disorder, affects at least 1% of the population over the age of 50. However, very little information is available regarding the molecular basis of PD among Indians. Since the largest number of mutations have been detected in the Parkin gene among all known PD loci, we aim to use Parkin as the candidate gene to assess its role in PD-related pathogenesis in Indian patients. A total of 138 PD patients, with the mean age of onset being 47±14 (age range, 5-77 years), and 100 controls were recruited for the study from eastern India. Parkin mutations were detected by amplification of exons of the gene along with the flanking splice junctions by polymerase chain reaction, single-stranded conformation polymorphism and DNA sequencing. A total of 18 nucleotide variants including six novel changes were detected. These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD. Clinical features of the Parkin mutants were compared. Among eastern Indian PD patients, mutation in Parkin was identified in 7.24% cases.
KW - PD
KW - Parkin
KW - Parkinson's disease
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U2 - 10.1016/j.parkreldis.2006.04.005
DO - 10.1016/j.parkreldis.2006.04.005
M3 - Article
C2 - 16793319
AN - SCOPUS:33748809507
VL - 12
SP - 420
EP - 426
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
SN - 1353-8020
IS - 7
ER -