Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha) (short communication)

J Neural Transm (Vienna). 2001;108(8-9):1029-34. doi: 10.1007/s007020170021.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence / genetics
  • Chromosomes, Human, Pair 2 / genetics*
  • DNA Mutational Analysis
  • Dopamine / genetics
  • Exons / genetics*
  • Female
  • Genetic Testing
  • Humans
  • Introns / genetics*
  • Male
  • Mutation / genetics*
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / physiopathology
  • Substantia Nigra / physiopathology
  • Transforming Growth Factor alpha / genetics*

Substances

  • Transforming Growth Factor alpha
  • Dopamine