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.

*Chromosomes, Human, Pair 1, 0 (Oncogene Proteins), 0 (PARK7 protein, human), Comparative Study, DNA Mutational Analysis, Family Health, Human, Mutation, Oncogene Proteins/*genetics, Parkinson's disease, Parkinsonian Disorders/*genetics, Support, Non-U.S. Gov't
dx.doi.org/10.1007/s10072-003-0108-0, hdl.handle.net/1765/5904
Neurological Sciences
Erasmus MC: University Medical Center Rotterdam

Bonifati, V, Squitieri, F, Krieger, E, Vanacore, N, van Swieten, J.C, Brice, A, … Rizzu, P. (2003). DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurological Sciences, 24(3), 159–160. doi:10.1007/s10072-003-0108-0