Genetic basis of Parkinson disease.
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.
Xiromerisiou
Georgia
G
Institute for Biomedical Technology (BIOMED), Centre for Research and Technology-Thessaly (CERETETH), Larussa, Greece.
Dardiotis
Efthimios
E
Tsimourtou
Vaïa
V
Kountra
Persa Maria
PM
Paterakis
Konstantinos N
KN
Kapsalaki
Eftychia Z
EZ
Fountas
Kostas N
KN
Hadjigeorgiou
Georgios M
GM
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
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