About: Parkinson's Disease Pathway KEGG

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Attributes	Values
rdf:type	Class
rdfs:label	Parkinson's Disease Pathway KEGG
rdfs:subClassOf	Neurodegenerative Disorders Pathway
Semantic_Type	Functional Concept
Preferred_Name	Parkinson's Disease Pathway KEGG
UMLS_CUI	C1521736
KEGG_ID	hsa05012
ALT_DEFINITION	Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. Mutations or altered expression of these proteins contributes to PD pathogenesis through common mechanisms that result in proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein and the recently described functional duplication of alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Indeed, formation of protofibrils or aggregates and Lewy bodies (LBs) diminishes the availability of the physiological forms of alpha-synuclein, favoring an increase in TH (tyrosine hydroxylase) and DAT (dopamine transporter), but diminishes formation of vesicles and neuronal plasticity. Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondrial activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress.KEGG
Legacy_Concept_Name	Parkinsons_Disease_Pathway
FULL_SYN	Parkinson's DiseasePTKEGG Parkinson's Disease Pathway KEGGPTNCI
DesignNote	This pathway originally was KEGG_ID hsa05020.
code	C38845
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