Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

@article{Bonifati2002MutationsIT,
  title={Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism},
  author={Vincenzo Bonifati and Patrizia Rizzu and Marijke J. van Baren and Onno Schaap and Guido J. Breedveld and Elmar Krieger and Marieke C J Dekker and Ferdinando Squitieri and Pablo Ib{\'a}{\~n}ez and Marijke Joosse and Jeroen W van Dongen and Nicola Vanacore and John Cornelis van Swieten and Alexis Brice and Giuseppe Meco and Cornelia M. van Duijn and Ben A. Oostra and Peter Heutink},
  journal={Science},
  year={2002},
  volume={299},
  pages={256 - 259}
}
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and… Expand

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Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism
TLDR
No mutations were found in the screening series for DJ-1 mutations, indicating that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified. Expand
The DJ-1 gene and protein: links with Parkinson's disease
TLDR
It is suggested that mutant, but not wild-type DJ-1 can localize to the mitochondria, leaving lower levels of the protein in the cytoplasm and other subcellular locations that may result in cytopathology. Expand
Mutations in DJ-1 are rare in familial Parkinson disease
TLDR
The results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD. Expand
Expression of DJ-1 in Neurodegenerative Disorders.
TLDR
This chapter provides an overview on the expression of DJ-1 mRNA and protein in different neurodegenerative disorders and discusses some of its main functions together withDJ-1's potential for neuroprotection. Expand
DJ-1 (PARK7) and Parkinson's Disease
TLDR
This chapter reviews more recent advances in the genetic and clinical aspects of parkinson protein 7 (PARK7) and discusses the molecular biology of this form and proposes that DJ-1 influences gene expression by interacting with transcription factors. Expand
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson’s disease
TLDR
Parks7, an autosomal recessive form of early-onset parkinsonism caused by mutations in the DJ-1 gene, is focused on and its proposed activity as a molecular chaperone and/or as oxidative sensor appear intriguing in the light of the current theories on the pathogenesis of PD. Expand
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
TLDR
Evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role forDJ-1 as an antioxidant and/or a molecular chaperone, and this will lead to a better understanding of the pathogenesis of DJ- 1-related and common forms of Parkinson’s disease. Expand
Early-Onset Parkinson's Disease: A Novel Deletion Comprising the DJ-1 and TNFRSF9 Genes.
TLDR
A Turkish family with a large deletion in the neighboring genes DJ-1 and TNFRSF9 is described, raising the question if TNFRL9 is a possible disease modifier. Expand
DJ-1 mutations in Parkinson's disease.
TLDR
It was confirmed that PARK6 and PARK7 (DJ-1), despite being phenotypically similar and mapping to the same small chromosomal region of 1p36, are caused by mutations in separate genes. Expand
Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD
TLDR
The authors analyzed whether a polymorphism within exon 1 of DJ-1 contributes to the risk of sporadic PD in a Finnish case-control series and found that this gene does not play a major role in the genetic predisposition to PD in this population. Expand
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