DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

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....

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Bibliographic Details
Published in:Neurological sciences 2003-10, Vol.24 (3), p.159-160
Main Authors: Bonifati, V, Rizzu, P, Squitieri, F, Krieger, E, Vanacore, N, van Swieten, J C, Brice, A, van Duijn, C M, Oostra, B, Meco, G, Heutink, P
Format: Article
Language:English
Subjects:
Chromosomes, Human, Pair 1
DNA Mutational Analysis
Family Health
Humans
Intracellular Signaling Peptides and Proteins
Mutation
Neurology
Neurosciences
Oncogene Proteins - genetics
Parkinsonian Disorders - genetics
Protein Deglycase DJ-1
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Summary: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.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-003-0108-0