A deletion in DJ-1 and the risk of dementia--a population-based survey.
The DJ-1 gene is associated with autosomal recessive early-onset Parkinsonism, most likely through its role in defense against oxidative stress. Oxidative stress is not only involved in Parkinson's disease, but also in other neurodegenerative disorders, such as dementia. We assessed the presence of a 14 kb DJ-1 deletion in 191 patients with dementia, ascertained from the genetically isolated population where the first kindred with DJ-1 related Parkinsonism was originally identified. The control group consisted of 129 non-demented subjects. We found the deletion in two patients and one control. There was no evidence for an increased risk of dementia in carriers. All subjects were heterozygous for the deletion and related to a common ancestor within eight generations. Our results suggest it is unlikely that haploinsufficiency in the DJ-1 gene imparts an increased risk for dementia.
Arias Vásquez
Alejandro
A
Genetic-Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus MC, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. a.ariasvasquez@erasmusmc.nl
Sleegers
Kristel
K
Dekker
Marieke C J
MC
van Gool
Willem A
WA
van Swieten
John C
JC
Aulchenko
Yurii S
YS
Oostra
Ben A
BA
van Duijn
Cornelia M
CM
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics; D001519:Behavior; D016022:Case-Control Studies; D003625:Data Collection; D003704:Dementia / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009426:Netherlands / Q000453:epidemiology; D015513:Oncogene Proteins / Q000235:genetics*; D011153:Population; D000071617:Protein Deglycase DJ-1; D018570:Risk Assessment
D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1