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.
MeSH terms
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Brain Chemistry*
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Gene Amplification*
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Gene Dosage*
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Humans
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Molecular Weight
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Mutation*
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Nerve Tissue Proteins / analysis*
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Nerve Tissue Proteins / blood
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Nerve Tissue Proteins / chemistry
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Nerve Tissue Proteins / genetics
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Parkinson Disease / blood
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Parkinson Disease / genetics*
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Parkinson Disease / metabolism
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RNA, Messenger / biosynthesis*
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Solubility
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Synucleins
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alpha-Synuclein
Substances
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Nerve Tissue Proteins
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RNA, Messenger
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SNCA protein, human
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Synucleins
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alpha-Synuclein