Mutation analysis of the glial cell line-derived neurotrophic factor gene in Parkinson's disease.

Abstract:

: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.

journal_name

Exp Neurol

journal_title

Experimental neurology

authors

Wartiovaara K,Hytönen M,Vuori M,Paulin L,Rinne J,Sariola H

doi

10.1006/exnr.1998.6857

subject

Has Abstract

pub_date

1998-08-01 00:00:00

pages

307-9

issue

2

eissn

0014-4886

issn

1090-2430

pii

S0014-4886(98)96857-1

journal_volume

152

pub_type

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