DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
October 2003
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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.
- Comparative Study
- Human
- Support, Non-U.S. Gov't
- Mutation
- DNA Mutational Analysis
- Parkinson's disease
- Family Health
- *Chromosomes, Human, Pair 1
- Parkinsonian Disorders/*genetics
- 0 (PARK7 protein, human)
- 0 (Oncogene Proteins)
- Oncogene Proteins/*genetics
- protein
- family
- response
- study
- stress
- mutation
- disease
- parkinsonism
- protein misfolding
- parkinson
- park 7 locus
- oxidative stress response
- netherland
- dutch family
- brain
- recessive
- patient
- oxidative
- center
- bonifati
