Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
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 pathogenesis of Parkinson's disease.
Bonifati
Vincenzo
V
Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands. bonifati@kgen.fgg.eur.nl
Rizzu
Patrizia
P
van Baren
Marijke J
MJ
Schaap
Onno
O
Breedveld
Guido J
GJ
Krieger
Elmar
E
Dekker
Marieke C J
MC
Squitieri
Ferdinando
F
Ibanez
Pablo
P
Joosse
Marijke
M
van Dongen
Jeroen W
JW
Vanacore
Nicola
N
van Swieten
John C
JC
Brice
Alexis
A
Meco
Giuseppe
G
van Duijn
Cornelia M
CM
Oostra
Ben A
BA
Heutink
Peter
P
D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D019556:COS Cells; D002467:Cell Nucleus / Q000378:metabolism; D002878:Chromosomes, Human, Pair 1; D003001:Cloning, Molecular; D003593:Cytoplasm / Q000378:metabolism; D018076:DNA, Complementary; D005091:Exons; D005808:Genes, Recessive; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D015513:Oncogene Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D018384:Oxidative Stress; D016716:PC12 Cells; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D020161:Physical Chromosome Mapping; D017354:Point Mutation; D000071617:Protein Deglycase DJ-1; D017433:Protein Structure, Secondary; D051381:Rats; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D014162:Transfection
D018076:DNA, Complementary; D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1