title: Microarray expression analysis in idiopathic and LRRK2-associated Parkinson's disease.
abstract: LRRK2 mutations are the most common genetic cause of Parkinson's disease (PD). We performed a whole-genome RNA profiling of putamen tissue from idiopathic PD (IPD), LRRK2-associated PD (G2019S mutation), neurologically healthy controls and one asymptomatic LRRK2 mutation carrier, by using the Genechip Human Exon 1.0-ST Array. The differentially expressed genes found in IPD revealed an alteration of biological pathways related to long-term potentiation (LTP), GABA receptor signalling, and calcium signalling pathways, among others. These pathways are mainly related with cell signalling cascades and synaptic plasticity processes. They were also altered in the asymptomatic LRRK2 mutation carrier but not in the LRRK2-associated PD group. The expression changes seen in IPD might be attributed to an adaptive consequence of a dysfunction in the dopamine transmission. The lack of these altered molecular pathways in LRRK2-associated PD patients suggests that these cases could show a different molecular response to dopamine transmission impairment.
authors.affiliation: Parkinson's Disease and Movement Disorders Unit, Neurology Service-Hospital Clínic, Department of Medicine-Universitat de Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Botta-Orfila
authors.forename: Eduard
authors.initials: E
authors.lastname: Tolosa
authors.forename: Ellen
authors.initials: E
authors.lastname: Gelpi
authors.forename: Alex
authors.initials: A
authors.lastname: Sànchez-Pla
authors.forename: Maria-José
authors.initials: MJ
authors.lastname: Martí
authors.forename: Francesc
authors.initials: F
authors.lastname: Valldeoriola
authors.forename: Manel
authors.initials: M
authors.lastname: Fernández
authors.forename: Francesc
authors.initials: F
authors.lastname: Carmona
authors.forename: Mario
authors.initials: M
authors.lastname: Ezquerra
mesh_terms: D004252:DNA Mutational Analysis; D020869:Gene Expression Profiling; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D011699:Putamen / Q000378:metabolism*; D015398:Signal Transduction / Q000235:genetics
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases