Brain transcriptomic profiling in idiopathic and LRRK2-associated Parkinson's disease.
LRRK2 mutations are the most common genetic cause of Parkinson's disease (PD). We performed a whole-genome RNA profiling of locus coeruleus post-mortem tissue, a histopathologically affected brain tissue in PD, from idiopathic PD (IPD) and LRRK2-associated PD patients. The differentially expressed genes found in IPD and LRRK2-associated PD are involved in the gene ontology terms of synaptic transmission and neuron projection. In addition, differentially expressed genes in the IPD group are associated with immune system related pathways. Specifically, the study performed highlights the presence of differential expression of genes located in the chromosome 6p21.3 belonging to the class II HLA. Our findings support the hypothesis of a potential role of neuroinflammation and the involvement of the HLA genetic area in IPD pathogenesis. Future studies are necessary to shed light on the relation of immune system related pathways in the etiopathogenesis of PD.
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.
Teresa
T
Botta-Orfila
Alex
A
Sànchez-Pla
Manel
M
Fernández
Francesc
F
Carmona
Mario
M
Ezquerra
Eduard
E
Tolosa
D001921:Brain / Q000378:metabolism*; D030541:Databases, Genetic; D020869:Gene Expression Profiling; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D059467:Transcriptome
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases