α-Synuclein in blood and brain from familial Parkinson disease with <i>SNCA</i> locus triplication
David W. Miller(National Institute of Neurological Disorders and Stroke), Stephen Hague(National Institute of Neurological Disorders and Stroke), Jordi Clarimón(National Institute of Neurological Disorders and Stroke), Maria Fortuna Baptista(National Institute of Neurological Disorders and Stroke), Katrina Gwinn(National Institute of Neurological Disorders and Stroke), Mark Cookson(National Institute of Neurological Disorders and Stroke), Andrew Singleton(National Institute of Neurological Disorders and Stroke)
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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.
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