Mutation analysis of the glial cell line-derived neurotrophic factor gene in Parkinson's disease.
Glial cell line-derived neurotrophic factor (GDNF) is a potent survival factor for nigrostriatal dopaminergic, central cholinergic, and motoneurons. GDNF also prevents the neuronal loss in experimental animal models for Parkinson's disease (PD). We have now investigated the GDNF gene for possible mutations in a group of nonfamilial PD and other patients. By cleavase fragment length polymorphism (CFLP) analysis and direct sequencing of the full coding region of GDNF gene we found a novel GDNF sequence variant in 1 of 30 PD patients. The alteration does not change the predicted amino acid sequence and it was also found in 1 of 20 patients without PD, suggesting that it represents a polymorphism in the gene. No other sequence variations were found. We conclude therefore that mutations in the GDNF coding region are not commonly contributing to the pathogenesis of PD.
Institute of Biotechnology, University of Helsinki, Helsinki, FIN-00014, Finland.
K
K
Wartiovaara
M
M
Hytönen
M
M
Vuori
L
L
Paulin
J
J
Rinne
H
H
Sariola
D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D051100:Glial Cell Line-Derived Neurotrophic Factor; D006801:Humans; D009154:Mutation; D009414:Nerve Growth Factors; D009419:Nerve Tissue Proteins / Q000235:genetics*; D018696:Neuroprotective Agents / Q000378:metabolism*; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction
C495039:GDNF protein, human; D051100:Glial Cell Line-Derived Neurotrophic Factor; D009414:Nerve Growth Factors; D009419:Nerve Tissue Proteins; D018696:Neuroprotective Agents