M. Zink et al., Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha), J NEURAL TR, 108(8-9), 2001, pp. 1029-1034
A susceptibility gene for Parkinson's disease (PD) with late onset and typi
cal Lewy-body pathology maps to chromosome 2p13 (PARK3). In the present stu
dy we examined the gene for transforming growth factor alpha (TGF alpha), w
hich is located in the PARK3-region, as a potential candidate gene. This po
lypeptide mitogen exerts trophic actions on dopaminergic neurons and TGF al
pha-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 mut
ations 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 region
s or splice sites.