OrganismHomo sapiens
Aging PhenotypeN/A
Allele TypeDominant
DescriptionMutation of alpha synulcein is associated with Parkinson`s disease (Polymeropoulos et al., 1997). Resting tremor, rigidity, bradykinesia and postural instability are associated with selective neurodegeneration of the pigmented neurons in the brain stem (the substantia nigra and the locus coerueus) and the presence of intracytoplasmic inclusion bodies (Lewy bodies) (Yamamura et al., 1973).
Gene FunctionPresynaptic protein thought to be involved in neuronal plasticity.
Other PhenotypesTwo types of mutations are known for the alpha-synuclein gene: Ala53Thr and Ala30Pro. Evidence suggests that the mutated protein may misfold, aggregate and resist degradation (Goedert, 2001).
Primary ReferencePolymeropoulos M., Lavedan C., Leroy E., Ide S., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E., Chandrasekharappa S., Athanassiadou A., Papapetropoulos T., Johnson W., Lazzarini A., Duvoisin R., Di Iorio G., Golbe L., and Nu [Abstract]
Other ReferencesGoedert, M. (2001). Alpha-synuclein and neurodegenerative diseases. Nat Rev Neurosci 2, 492-501. [Abstract]
Relevant LinksLocusLink:
KeywordsParkinson's disease, neuron, H. sapiens