Objective: To establish a technique platform of DJ-1 gene exon rearrangement using real-time PCR and to analyze DJ-1 gene exon rearrangement mutation in patients with autosomal recessive early-onset Parkinsonism(AREP).
Methods: Real-time PCR was used to analyze DJ-1 gene exon rearrangement mutation in 22 probands with AREP from unrelated Chinese Han families and 30 normal controls.
Results: We obtained satisfactory real-time PCR reaction conditions and primers of DJ-1 gene coding exons No exon rearrangement mutation in the DJ-1 gene is detected in this group.
Conclusion: We established platform of DJ-1 gene exon rearrangement using real-time PCR. Exon rearrangement mutation in the DJ-1 gene is rare in Chinese patients with AREP.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.3969/j.issn.1672-7347.2010.05.006 | DOI Listing |
Mov Disord Clin Pract
January 2025
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Hôpital de la Salpêtrière, INSERM, CNRS, Paris, France.
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1.
Objective: We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.
NPJ Parkinsons Dis
January 2025
Department of Life Sciences and Medicine (DLSM), University of Luxembourg, Belvaux, Luxembourg.
Loss-of-function mutations in PARK7, encoding for DJ-1, can lead to early onset Parkinson's disease (PD). In mice, Park7 deletion leads to dopaminergic deficits during aging, and increased sensitivity to oxidative stress. However, the severity of the reported phenotypes varies.
View Article and Find Full Text PDFCardiovasc Ther
January 2025
Department of Cardiology, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi Medical Center Nanjing Medical University, Wuxi 214023, China.
Ischemic heart disease (IHD) remains one of the most prominent causes of mortality and morbidity globally, and the risk of ischemia-reperfusion injury is becoming more severe and constant. This underscores the need to develop new methods to protect the heart from damage. DJ-1 is a multifunctional intracellular protein encoded by the gene that plays roles in processes including the control of autophagy, the preservation of mitochondrial integrity, the prevention of apoptosis, and the elimination of oxidative stress.
View Article and Find Full Text PDFCell Mol Biol (Noisy-le-grand)
November 2024
Eskişehir Osmangazi University, Medical Faculty, Department of Biostatistics, Eskişehir, Türkiye.
Neuroblastoma shows the highest lethality in childhood and has poor prognosis at high grade. Our objectives included determining how retinoic acid affected the growth of neuroblastoma cells and the relationship between chemicals unique to neurons and cell death processes like apoptosis and mitophagy. The 50% inhibitory concentration of retinoic acid on SH-SY5Y neuroblastoma cells was determined at the 24th, 48th and 72nd hours.
View Article and Find Full Text PDFAppl Physiol Nutr Metab
January 2025
Department of Medical Biochemistry, Faculty of Basic Medical Sciences, Usmanu Danfodiyo University Sokoto, Nigeria.
Parkinson's disease (PD) is a progressive movement disorder associated with brain iron (Fe) accumulation and free radicals. Brown rice (BR) is antioxidant-rich and has been shown to ameliorate oxidative stress-induced damage. The aim of this study was to investigate the effects of BR compared to white rice (WR) on Fe-induced PD in a fruit fly model.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!