Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism
Background & objectives: Parkinsonian disorder, including Parkinson's disease (PD), is an aetiologically complex neurodegenerative disorder. Mutations in leucine-rich repeat kinase 2 (LRRK2) gene have been implicated in an autosomal dominant form of PD with variable penetrance. The identifi...
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doaj-5a22e0f9e4964a38aec538dc45bdcf242020-11-25T02:50:08ZengWolters Kluwer Medknow PublicationsIndian Journal of Medical Research0971-59162020-01-01151659259710.4103/ijmr.IJMR_25_18Role of LRRK2 variant p.Gly2019Ser in patients with ParkinsonismDipanwita SadhukhanArindam BiswasArunima BhaduriNeelanjana SarkarAtanu BiswasShyamal K DasTapas K BanerjeeKunal RayJharna RayBackground & objectives: Parkinsonian disorder, including Parkinson's disease (PD), is an aetiologically complex neurodegenerative disorder. Mutations in leucine-rich repeat kinase 2 (LRRK2) gene have been implicated in an autosomal dominant form of PD with variable penetrance. The identification of a common LRRK2 variant (p.Gly2019Ser) in dementia with Lewy bodies indicated its potential role in Parkinsonian disorder. The current study was aimed to identify the p.Gly2019Ser variant in Indian patients with Parkinsonian disorder. Methods: The patient group consisting of 412 classical PD patients, 107 PD patients with cognitive impairment, 107 patients with Parkinson plus syndrome and 200 unrelated controls were recruited from eastern part of India. The allele representing p.Gly2019Ser variant was screened by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results: The p.Gly2019Ser variant was identified in an East Indian young-onset female PD patient in a heterozygous state having several motor and autonomic problems without disturbed cognition. Her younger brother, sister and elder son harbouring the same mutation were asymptomatic carriers for the variant. However, the influence of DNM3 on decreased disease onset in this family was not clear. Interpretation & conclusions: Identification of the p.Gly2019Ser variant in only one patient among a large number of Indian patients (n=626) with Parkinsonian disorder in our study suggests a limited role of the LRRK2 variant towards disease pathogenesis.http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2020;volume=151;issue=6;spage=592;epage=597;aulast=Sadhukhangly2019ser mutation - lrrk2 - parkinson plus - parkinson's disease - parkinsonism |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Dipanwita Sadhukhan Arindam Biswas Arunima Bhaduri Neelanjana Sarkar Atanu Biswas Shyamal K Das Tapas K Banerjee Kunal Ray Jharna Ray |
spellingShingle |
Dipanwita Sadhukhan Arindam Biswas Arunima Bhaduri Neelanjana Sarkar Atanu Biswas Shyamal K Das Tapas K Banerjee Kunal Ray Jharna Ray Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism Indian Journal of Medical Research gly2019ser mutation - lrrk2 - parkinson plus - parkinson's disease - parkinsonism |
author_facet |
Dipanwita Sadhukhan Arindam Biswas Arunima Bhaduri Neelanjana Sarkar Atanu Biswas Shyamal K Das Tapas K Banerjee Kunal Ray Jharna Ray |
author_sort |
Dipanwita Sadhukhan |
title |
Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism |
title_short |
Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism |
title_full |
Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism |
title_fullStr |
Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism |
title_full_unstemmed |
Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism |
title_sort |
role of lrrk2 variant p.gly2019ser in patients with parkinsonism |
publisher |
Wolters Kluwer Medknow Publications |
series |
Indian Journal of Medical Research |
issn |
0971-5916 |
publishDate |
2020-01-01 |
description |
Background & objectives: Parkinsonian disorder, including Parkinson's disease (PD), is an aetiologically complex neurodegenerative disorder. Mutations in leucine-rich repeat kinase 2 (LRRK2) gene have been implicated in an autosomal dominant form of PD with variable penetrance. The identification of a common LRRK2 variant (p.Gly2019Ser) in dementia with Lewy bodies indicated its potential role in Parkinsonian disorder. The current study was aimed to identify the p.Gly2019Ser variant in Indian patients with Parkinsonian disorder.
Methods: The patient group consisting of 412 classical PD patients, 107 PD patients with cognitive impairment, 107 patients with Parkinson plus syndrome and 200 unrelated controls were recruited from eastern part of India. The allele representing p.Gly2019Ser variant was screened by polymerase chain reaction followed by restriction fragment length polymorphism analysis.
Results: The p.Gly2019Ser variant was identified in an East Indian young-onset female PD patient in a heterozygous state having several motor and autonomic problems without disturbed cognition. Her younger brother, sister and elder son harbouring the same mutation were asymptomatic carriers for the variant. However, the influence of DNM3 on decreased disease onset in this family was not clear.
Interpretation & conclusions: Identification of the p.Gly2019Ser variant in only one patient among a large number of Indian patients (n=626) with Parkinsonian disorder in our study suggests a limited role of the LRRK2 variant towards disease pathogenesis. |
topic |
gly2019ser mutation - lrrk2 - parkinson plus - parkinson's disease - parkinsonism |
url |
http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2020;volume=151;issue=6;spage=592;epage=597;aulast=Sadhukhan |
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