Recessive Parkinson's disease.
Parkinson's disease (PD) is a progressive neurodegenerative disease caused by loss of dopaminergic neurons in the substantia nigra pars compacta. Although the etiology of PD remains unclear, it is now clear that genetic factors contribute to the pathogenesis of the disease. Recently, several causative genes have been identified in monogenic forms of PD. Accumulating evidence indicates that their gene products play important roles in mitochondrial function, oxidative stress response, and the ubiquitin-proteasome system, which are also implicated in sporadic PD, suggesting that these gene products share a common pathway to nigral degeneration in both familial and sporadic PD. Here, we review recent advances in knowledge about genes associated with recessive PD, including parkin, PINK1, and DJ-1.
Kubo
Shin-ichiro
S
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Hattori
Nobutaka
N
Mizuno
Yoshikuni
Y
D004298:Dopamine / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008928:Mitochondria / Q000235:genetics / Q000502:physiology; D015513:Oncogene Proteins / Q000235:genetics; D018384:Oxidative Stress / Q000235:genetics / Q000502:physiology; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D046988:Proteasome Endopeptidase Complex / Q000235:genetics / Q000502:physiology; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics; D013378:Substantia Nigra / Q000503:physiopathology; D025801:Ubiquitin / Q000235:genetics / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D000099202:PTEN-Induced Putative Kinase
D004298:Dopamine; D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D046988:Proteasome Endopeptidase Complex; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D025801:Ubiquitin; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein; C105131:PARK7 protein, human