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

The synucleins are a family of small proteins expressed in nervous tissue, which have been implicated in neurodegeneration. Using single strand confor mation polymorphism analysis we screened for polymorphisms and mutations in the gene encoding human persyn, a recently discovered member of the synucl ein family, in controls, patients with sporadic or familial amyotrophic lat eral sclerosis (ALS) or familial Parkinson's disease (PD). Six polymorphism s in the genomic sequence of persyn were detected; A(590)C (5'untranslated region), G(1943)C (exon 3), G(2049)A (intron 3), T4502C (intron 3), T(4552) A (exon 4) and C5019T (3'untranslated region). However no associations with disease state were found in our sample group. (C) 1999 Elsevier Science Ir eland Ltd. All rights reserved.