No pathogenic mutations in the synphilin-1 gene in Parkinson's disease

Bandopadhyay, R., de Silva, R., Khan, N., Graham, E., Vaughan, J., Engelender, S., Ross, C., Morris, H., Morris, C., Wood, N. W., Daniel, S. and Lees, A. 2001. No pathogenic mutations in the synphilin-1 gene in Parkinson's disease. Neuroscience Letters 307 (2) , pp. 125-127. 10.1016/S0304-3940(01)01935-8

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Abstract

alpha-Synuclein is mutated in rare autosomal dominant forms of Parkinson's disease and is a major component of Lewy bodies and neurites. Synphilin-1, a novel protein interacts in vivo and co-localises with alpha-synuclein in Lewy bodies. We analysed the synphilin-1 gene in familial Parkinson's disease by single-strand conformation polymorphism (SSCP) and automated sequencing but found no coding mutations. However, we identified two novel intronic polymorphisms; an A/T polymorphism in intron 2, resulting in the introduction of an Alu1 site and a second G/T polymorphism in intron 4. We analysed the intron 2 polymorphism for allelic association as it was conducive to rapid screening but observed no changes in frequency between Parkinson's disease cases and controls.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Limerick : Elsevier Scientific Publishers Ireland
ISSN:	0304-3940
Last Modified:	26 Nov 2015 09:42
URI:	https://orca.cardiff.ac.uk/id/eprint/80720

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