[Causative gene and its associated gene for Parkinson disease and dystonia].
Parkinson disease (PD) and dystonia are two major part of neurodegenerative disorders. The underlying cause of PD development has been considered to be a combination of genetic factors and environmental substrates. In case of dystonia, which includes primary sporadic dystonia, such as task specific dystonia, cervical dystonia and so on, are also considered to associate with unknown vulnerable genetic factors. In this paper, the clinical features and causative genes for PD and dystonia were described; especially in particular, the description of those genes associated with the PARK and DYT series were provided. Most of the identified causative genes for PD are associated with the protein degradation and cell death process via convergent mechanisms such as ubiquitin-proteasome system, mitochondrial dysfunction, oxidative stress, and lysosomal system (autophagia). On the other hand, the pathogenic mechanism for dystonia is gradually discovered to be divergent suggested by identified genes, such as torsinA, GCH1, etc, which is compatible and well understood with the divergent expression of dystonia phenotype. Another breakthroughs are required to investigate the treatment of both PD and dystonia based on the pathogenic mechanisms.
Hasegawa
Kazuko
K
Department of Neurology, Sagamihara Hospital, 18-1 Saku-radai, Sagamihara 228-8522, Japan.
Toyoshima
Itaru
I
D004421:Dystonia / Q000235:genetics*; D051548:Histone Acetyltransferases; D047908:Intracellular Signaling Peptides and Proteins; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D018832:Molecular Chaperones; D015513:Oncogene Proteins; D010300:Parkinson Disease / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases; D006180:Proton-Translocating ATPases; D035381:TATA-Binding Protein Associated Factors; D035362:Transcription Factor TFIID; D043222:Ubiquitin Thiolesterase; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein; D000099202:PTEN-Induced Putative Kinase
D051548:Histone Acetyltransferases; D047908:Intracellular Signaling Peptides and Proteins; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D018832:Molecular Chaperones; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases; D006180:Proton-Translocating ATPases; D035381:TATA-Binding Protein Associated Factors; D035362:Transcription Factor TFIID; D043222:Ubiquitin Thiolesterase; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein; D000099202:PTEN-Induced Putative Kinase; C514983:ATP13A2 protein, human; C497604:SNCA protein, human; C108175:TOR1A protein, human; C482860:UCHL1 protein, human; C111567:parkin protein; C495280:LRRK2 protein, human; C069001:TATA-binding protein associated factor 250 kDa; C105131:PARK7 protein, human