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Four chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Italian family. By positional cloning within the refined PARK7 critical region we recently identified mutations in the DJ-1 gene in the two PARK7-linked families. The function of DJ-1 remains largely unknown, but evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role for DJ-1 as an antioxidant and/or a molecular chaperone. Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease.

Original publication

DOI

10.1007/s10072-003-0108-0

Type

Journal article

Journal

Neurol Sci

Publication Date

10/2003

Volume

24

Pages

159 - 160

Keywords

Chromosomes, Human, Pair 1, DNA Mutational Analysis, Family Health, Humans, Intracellular Signaling Peptides and Proteins, Mutation, Oncogene Proteins, Parkinsonian Disorders, Protein Deglycase DJ-1