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Pathway : Parkinson's disease

Identifier  05012 Description  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 a 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 These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress Point mutations in 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 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 mitochondiral 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

1 Data Sets

270 Genes

0 Proteins