Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.

Point mutations in LRRK2 cause autosomal dominant Parkinson's disease. Despite extensive efforts to determine the mechanism of cell death in patients with LRRK2 mutations, the aetiology of LRRK2 PD is not well understood. To examine possible alterations in gene expression linked to the presence...

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Main Authors: Michael J Devine, Alice Kaganovich, Mina Ryten, Adamantios Mamais, Daniah Trabzuni, Claudia Manzoni, Philip McGoldrick, Diane Chan, Allissa Dillman, Julia Zerle, Susannah Horan, Jan-Willem Taanman, John Hardy, Jose-Felix Marti-Masso, Daniel Healy, Anthony H Schapira, Benjamin Wolozin, Rina Bandopadhyay, Mark R Cookson, Marcel P van der Brug, Patrick A Lewis
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0022489&type=printable
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author Michael J Devine
Alice Kaganovich
Mina Ryten
Adamantios Mamais
Daniah Trabzuni
Claudia Manzoni
Philip McGoldrick
Diane Chan
Allissa Dillman
Julia Zerle
Susannah Horan
Jan-Willem Taanman
John Hardy
Jose-Felix Marti-Masso
Daniel Healy
Anthony H Schapira
Benjamin Wolozin
Rina Bandopadhyay
Mark R Cookson
Marcel P van der Brug
Patrick A Lewis
author_facet Michael J Devine
Alice Kaganovich
Mina Ryten
Adamantios Mamais
Daniah Trabzuni
Claudia Manzoni
Philip McGoldrick
Diane Chan
Allissa Dillman
Julia Zerle
Susannah Horan
Jan-Willem Taanman
John Hardy
Jose-Felix Marti-Masso
Daniel Healy
Anthony H Schapira
Benjamin Wolozin
Rina Bandopadhyay
Mark R Cookson
Marcel P van der Brug
Patrick A Lewis
author_sort Michael J Devine
collection DOAJ
description Point mutations in LRRK2 cause autosomal dominant Parkinson's disease. Despite extensive efforts to determine the mechanism of cell death in patients with LRRK2 mutations, the aetiology of LRRK2 PD is not well understood. To examine possible alterations in gene expression linked to the presence of LRRK2 mutations, we carried out a case versus control analysis of global gene expression in three systems: fibroblasts isolated from LRRK2 mutation carriers and healthy, non-mutation carrying controls; brain tissue from G2019S mutation carriers and controls; and HEK293 inducible LRRK2 wild type and mutant cell lines. No significant alteration in gene expression was found in these systems following correction for multiple testing. These data suggest that any alterations in basal gene expression in fibroblasts or cell lines containing mutations in LRRK2 are likely to be quantitatively small. This work suggests that LRRK2 is unlikely to play a direct role in modulation of gene expression, although it remains possible that this protein can influence mRNA expression under pathogenic cicumstances.
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spelling doaj-art-c6fe6ed743ea4ec3bf74262e0c03b0ea2025-08-20T03:09:48ZengPublic Library of Science (PLoS)PLoS ONE1932-62032011-01-0167e2248910.1371/journal.pone.0022489Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.Michael J DevineAlice KaganovichMina RytenAdamantios MamaisDaniah TrabzuniClaudia ManzoniPhilip McGoldrickDiane ChanAllissa DillmanJulia ZerleSusannah HoranJan-Willem TaanmanJohn HardyJose-Felix Marti-MassoDaniel HealyAnthony H SchapiraBenjamin WolozinRina BandopadhyayMark R CooksonMarcel P van der BrugPatrick A LewisPoint mutations in LRRK2 cause autosomal dominant Parkinson's disease. Despite extensive efforts to determine the mechanism of cell death in patients with LRRK2 mutations, the aetiology of LRRK2 PD is not well understood. To examine possible alterations in gene expression linked to the presence of LRRK2 mutations, we carried out a case versus control analysis of global gene expression in three systems: fibroblasts isolated from LRRK2 mutation carriers and healthy, non-mutation carrying controls; brain tissue from G2019S mutation carriers and controls; and HEK293 inducible LRRK2 wild type and mutant cell lines. No significant alteration in gene expression was found in these systems following correction for multiple testing. These data suggest that any alterations in basal gene expression in fibroblasts or cell lines containing mutations in LRRK2 are likely to be quantitatively small. This work suggests that LRRK2 is unlikely to play a direct role in modulation of gene expression, although it remains possible that this protein can influence mRNA expression under pathogenic cicumstances.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0022489&type=printable
spellingShingle Michael J Devine
Alice Kaganovich
Mina Ryten
Adamantios Mamais
Daniah Trabzuni
Claudia Manzoni
Philip McGoldrick
Diane Chan
Allissa Dillman
Julia Zerle
Susannah Horan
Jan-Willem Taanman
John Hardy
Jose-Felix Marti-Masso
Daniel Healy
Anthony H Schapira
Benjamin Wolozin
Rina Bandopadhyay
Mark R Cookson
Marcel P van der Brug
Patrick A Lewis
Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
PLoS ONE
title Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
title_full Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
title_fullStr Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
title_full_unstemmed Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
title_short Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
title_sort pathogenic lrrk2 mutations do not alter gene expression in cell model systems or human brain tissue
url https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0022489&type=printable
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