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 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… 

Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism

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.

Expression of DJ-1 in Neurodegenerative Disorders.

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.

DJ-1 mutations in Parkinson's disease.

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.

Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD

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.

PET neuroimaging and mutations in the DJ-1 gene

Mutations in the DJ-1 gene lead to autosomal recessive early-onset parkinsonism, with reduced F-DOPA uptake concordant with typical Parkinson’s disease and in the, clinically unaffected, heterozygous relatives, F- DOPA metabolism was unremarkable, thus not suggesting a dosage effect of the DJThe1 gene.

The biochemistry of Parkinson's disease.

  • M. Cookson
  • Biology
    Annual review of biochemistry
  • 2005
Several genes have been identified for monogenic disorders that variably resemble Parkinson's disease, but it is not yet fully resolved how the recessive genes relate to alpha-synuclein, or whether they represent different ways to induce a similar phenotype.

DJ-1 Mutations are Rare in a Swedish Parkinson Cohort

The hypothesis that alterations in DJ-1 are not a common cause of familial and early-onset PD world-wide is strengthened, as a possible small effect of Ala167Ala onDJ-1 gene function is shown.

The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease.

It is concluded that DJ-1 is not an essential component of LBs and Lewy neurites, is expressed mainly by astrocytes in human brain tissue and is sensitive to oxidative stress conditions, consistent with the hypothesis that neuronal-glial interactions are important in the pathophysiology of Parkinson's disease.
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