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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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Publication Date

10/2003

Volume

24

Pages

159 - 160

Addresses

Department of Clinical Genetics, Erasmus Medical Center Rotterdam, 1738 DR Rotterdam, The Netherlands.

Keywords

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