title: Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha) (short communication).
abstract: A susceptibility gene for Parkinson's disease (PD) with late onset and typical Lewy-body pathology maps to chromosome 2p13 (PARK3). In the present study we examined the gene for transforming growth factor alpha (TGF alpha), which is located in the PARK3-region, as a potential candidate gene. This polypeptide mitogen exerts trophic actions on dopaminergic neurons and TGF alpha-deficient mice have fewer dopaminergic neurons. We did not find mutations in the exonic or exon-flanking intronic sequences of index patients of two families linked to 2p13. This result excludes mutations in the coding region of TGF alpha as a cause for hereditary PD, but does not rule out a possible role of sequence variants in regulatory regions or splice sites.
authors.affiliation: Neurologische Klinik, Klinikum Grosshadern, München, Federal Republic of Germany.
authors.forename: M
authors.initials: M
authors.lastname: Zink
authors.forename: L
authors.initials: L
authors.lastname: Grim
authors.forename: Z K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: T
authors.initials: T
authors.lastname: Gasser
mesh_terms: D001483:Base Sequence / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004298:Dopamine / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology; D013378:Substantia Nigra / Q000503:physiopathology; D016211:Transforming Growth Factor alpha / Q000235:genetics*
chemical_list: D016211:Transforming Growth Factor alpha; D004298:Dopamine