Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication.
basic_science · Level V
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Abstract
The authors recently demonstrated that genetic triplication of the SNCA locus causes Parkinson disease. Here it is shown that SNCA triplication results in a doubling in the amount of alpha-synuclein protein in blood. Examination of brain tissue showed a doubling in the level of SNCA message. However, at the protein level in brain, there was a greater effect on deposition of aggregated forms into insoluble fractions than on net expression of soluble alpha-synuclein.
Medical subject headings
- Brain Chemistry
- Gene Amplification
- Gene Dosage
- Mutation
- Nerve Tissue Proteins
- Parkinson Disease
- RNA, Messenger