Genetic variants and animal models in SNCA and Parkinson disease.
Parkinson disease (PD; MIM 168600) is the second most common progressive neurodegenerative disorder characterized by a variety of motor and non-motor features. To date, at least 20 loci and 15 disease-causing genes for parkinsonism have been identified. Among them, the α-synuclein (SNCA) gene was associated with PARK1/PARK4. Point mutations, duplications and triplications in the SNCA gene cause a rare dominant form of PD in familial and sporadic PD cases. The α-synuclein protein, a member of the synuclein family, is abundantly expressed in the brain. The protein is the major component of Lewy bodies and Lewy neurites in dopaminergic neurons in PD. Further understanding of its role in the pathogenesis of PD through various genetic techniques and animal models will likely provide new insights into our understanding, therapy and prevention of PD.
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, Hunan 410013, PR China. Electronic address: hdeng008@yahoo.com.
Hao
H
Deng
Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, Hunan 410013, PR China.
Lamei
L
Yuan
D000818:Animals; D017173:Caenorhabditis elegans; D004195:Disease Models, Animal; D004330:Drosophila; D014644:Genetic Variation; D000882:Haplorhini; D006801:Humans; D051379:Mice; D010300:Parkinson Disease / Q000235:genetics*; D051381:Rats; D051844:alpha-Synuclein / Q000235:genetics*
D051844:alpha-Synuclein
Genetics; Multiplication; Mutation; Parkinson disease; SNCA gene; Variation