A deletion in DJ-1 and the risk of dementia—a population-based survey

• Published in: Neuroscience letters 2004-12, Vol.372 (3), p.196-199
• Main Authors: Arias Vásquez, Alejandro, Sleegers, Kristel, Dekker, Marieke C.J., van Gool, Willem A., van Swieten, John C., Aulchenko, Yurii S., Oostra, Ben A., van Duijn, Cornelia M.
• Format: Article
• Language: English
• Subjects: Aged; Aged, 80 and over; Alzheimer Disease - genetics; Association study; Behavior; Biological and medical sciences; Case-Control Studies; Chromosome aberrations; Data Collection; Dementia; Dementia - epidemiology; Dementia - genetics; DJ-1 gene; Epidemiology; Female; Fundamental and applied biological sciences. Psychology; Gene Deletion; Gene Frequency; Genetics; Heterozygote; Humans; Intracellular Signaling Peptides and Proteins; Isolate; Male; Medical genetics; Medical sciences; Netherlands - epidemiology; Oncogene Proteins - genetics; Population; Protein Deglycase DJ-1; Risk Assessment; Vertebrates: nervous system and sense organs
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/j.neulet.2004.09.040

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.