Recently, mutations in DJ-1 (PARK7) were described as a novel cause of early-onset parkinsonism. We analysed the DJ-1 gene in a cohort of patients originating from Taiwan with early-onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ-1 open-reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ-1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. Our results and previous studies suggest that alterations to DJ-1 are not a common cause of early-onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified.
DJ-1 is a vital enzyme involved in the maintenance of mitochondrial health, and its mutation has been associated with an increased risk of Parkinson's disease (PD). Effective regulation of DJ-1 activity is essential for the well-being of mitochondria, and DJ-1 is thus a potential target for PD drug development. In this study, two peptides (EEMETIIPVDVMRRA and SRDVVICPDA) were utilized with the aim of enhancing the activity of DJ-1.
* In Alzheimer's, genes related to amyloid-beta accumulation are key, while Parkinson's is associated with mutations in the alpha-synuclein gene and other related genes affecting dopamine neurons.
* Research is focusing on alpha-synuclein as a potential biomarker for both diagnosis and treatment, highlighting its role in disease progression and potential connections between neurodegenerative diseases and other conditions like melanoma.
- This study focuses on creating a carbon black-based electrode enhanced with gold (Au) microflowers, aimed at improving its function as a biosensor to detect PARK7/DJ-1, a protein linked to Parkinson's disease.
- The use of Au microflowers helps effectively immobilize antibodies, allowing for the detection of protein binding by monitoring capacitance changes on the sensor's surface.
- Characterization techniques showed that these flower-like structures boost the sensor's performance, achieving a detection limit of 0.207 ng/mL for PARK7/DJ-1, which could aid in identifying early signs of Parkinson's disease.
During the third year of the pandemic in Peru, the persistent transmission of SARS-CoV-2 led to the appearance of more transmissible and immune-evasive Omicron sublineages; in that context, the National Genomic Surveillance of SARS-CoV-2 performed by the Peruvian National Institute of Health detected spike mutations in the circulating Omicron BA.5.1.
Division of Advanced Pathophysiological Science, Department of Biomolecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan. Electronic address:
DJ-1, a causative gene for hereditary recessive Parkinsonism, is evolutionarily conserved across eukaryotes and prokaryotes. Structural analyses of DJ-1 and its homologs suggested the 106th Cys is a nucleophilic cysteine functioning as the catalytic center of hydratase or hydrolase activity. Indeed, DJ-1 and its homologs can convert highly electrophilic α-oxoaldehydes such as methylglyoxal into α-hydroxy acids as hydratase in vitro, and oxidation-dependent ester hydrolase (esterase) activity has also been reported for DJ-1.
