Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease.

Abstract:

:The synucleins are a family of small proteins expressed in nervous tissue, which have been implicated in neurodegeneration. Using single strand conformation polymorphism analysis we screened for polymorphisms and mutations in the gene encoding human persyn, a recently discovered member of the synuclein family, in controls, patients with sporadic or familial amyotrophic lateral sclerosis (ALS) or familial Parkinson's disease (PD). Six polymorphisms in the genomic sequence of persyn were detected; A590C (5' untranslated region), G1943C (exon 3), G2049A (intron 3), T4502C (intron 3), T4552A (exon 4) and C5019T (3' untranslated region). However no associations with disease state were found in our sample group.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Flowers JM,Leigh PN,Davies AM,Ninkina NN,Buchman VL,Vaughan J,Wood NW,Powell JF

doi

10.1016/s0304-3940(99)00673-4

keywords:

subject

Has Abstract

pub_date

1999-10-15 00:00:00

pages

21-4

issue

1

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(99)00673-4

journal_volume

274

pub_type

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