title: Genetic basis of Parkinson disease.
abstract: Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal dominant or autosomal recessive inheritance. These genes include alpha-synuclein, parkin, PINK1, DJ-1, LRRK2, and ATP13A2. The monogenic variants are important tools in identifying cellular pathways that shed light on the pathogenesis of this disease. Certain common genetic variants are also likely to modulate the risk of PD. International collaborative studies and meta-analyses have identified common variants as genetic susceptibility risk/protective factors for sporadic PD.
authors.affiliation: Institute for Biomedical Technology (BIOMED), Centre for Research and Technology-Thessaly (CERETETH), Larussa, Greece.
authors.forename: Georgia
authors.initials: G
authors.lastname: Xiromerisiou
authors.forename: Efthimios
authors.initials: E
authors.lastname: Dardiotis
authors.forename: Vaïa
authors.initials: V
authors.lastname: Tsimourtou
authors.forename: Persa Maria
authors.initials: PM
authors.lastname: Kountra
authors.forename: Konstantinos N
authors.initials: KN
authors.lastname: Paterakis
authors.forename: Eftychia Z
authors.initials: EZ
authors.lastname: Kapsalaki
authors.forename: Kostas N
authors.initials: KN
authors.lastname: Fountas
authors.forename: Georgios M
authors.initials: GM
authors.lastname: Hadjigeorgiou
mesh_terms: D046690:Deep Brain Stimulation / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics* / Q000628:therapy; D011110:Polymorphism, Genetic; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D051844:alpha-Synuclein / Q000235:genetics; D000099202:PTEN-Induced Putative Kinase
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein; C105131:PARK7 protein, human