Parkinson’s disease (PD), a complex neurodegenerative disorder, is increasingly prevalent, with a strong genetic component. While environmental factors contribute, the exact cause remains elusive. Understanding PD’s genetic basis is vital for advancing research and treatment. This study seeks to investigate the genetic diversity of Parkinson’s disease in the Algerian population using whole exome sequencing (WES), with the goal of identifying rare variants across genes potentially associated with the disease. Whole exome sequencing (WES) was performed on a cohort of 19 Algerian patients with clinically confirmed Parkinson’s disease, including 8 patients with a positive family history. Variant annotation and functional effect prediction were performed using SnpEff, in conjunction with multiple reference genomic databases. Variant calling results were stored in Variant Call Format (VCF). Variants were classified according to their minor allele frequency (MAF): rare variants were defined as those with a MAF between 0.1% and 1%, while novel variants were defined as those with a MAF ≤ 0.1% or absent from all queried reference databases. Whole exome sequencing analysis identified 73 variants distributed across 22 genes in 19 Algerian patients with Parkinson’s disease. Following prioritization, nine variants were detected across six candidate genes (DDOST, AUP1, SNORD66, TRPM7, ORC6, and GLUD2), whose association with Parkinson’s disease had not been previously reported in North African populations. These genes are involved in several cellular functions, including protein homeostasis, DNA repair, cellular metabolism, and oxidative stress response. Among them, GLUD2 emerges as a particularly compelling candidate requiring functional validation for future investigations. This preliminary study highlights the genetic diversity of Parkinson’s disease in the Algerian population and underscores the value of whole exome sequencing for the identification of rare variants in underrepresented populations. The findings suggest potential novel research avenues that may contribute to expanding knowledge of the genetic architecture of the disease. Replication studies and functional validation will be required to confirm the biological and clinical relevance of the identified variants.
F. Sellali, Amina Belhadj, Noria Bouras et al.· Egyptian Journal of Medical...· 0 citations
Psoriasis is a persistent cutaneous disorder involving an imbalance in immune regulation, oxidative stress, and abnormal epidermal proliferation. This study evaluated the therapeutic efficacy of Ecballium elaterium (EE) balm compared with clobetasol propionate (0.05%) (CLO) in rats with psoriasis-like lesions induced by topical imiquimod (IMQ). A total of twenty-four adult male of the Wistar strain were randomly allocated to four groups comprising: control (healthy rats), IMQ-induced psoriasis, IMQ + EE balm, and IMQ + clobetasol. Psoriasis was induced by topical application of 5% imiquimod. Treatments were administered daily. Disease severity, histological changes, oxidative stress markers, serum tumor necrosis factor-α (TNF-α), and biochemical parameters were evaluated. EE balm markedly improved psoriatic lesions and reduced psoriasis severity scores in imiquimod-treated rats. Biochemical analyses indicated that EE balm produced fewer disturbances in hepatic and lipid parameters than clobetasol, notably by preventing alanine aminotransferase elevation (EE: 62.20 ± 3.09; CLO: 89 ± 6.08) and lowering total cholesterol (EE: 0.47 ± 0.08; CLO: 0.63 ± 0.03). However, serum triglyceride (EE: 0.61 ± 0.03) and creatinine concentrations (EE: 6.03 ± 0.23) remained elevated. Serum TNF-α levels, markedly elevated in imiquimod-treated rats, were significantly reduced following EE balm and clobetasol treatments compared with the IMQ experimental set (p < 0.001). EE balm also mitigated oxidative stress by lowering thiobarbituric acid reactive substances (TBARS) levels in serum and erythrocytes in the IMQ group. It also restored antioxidant activities, including catalase (IMQ: 3.06 ± 0.79; EE: 4.24 ± 0.73), super oxide dismutase (IMQ: 03.17 ± 1.01; EE: 18.24 ± 1.90), glutathione peroxidase (EE: 31.25 ± 4.99). Additionally, glutathione s-transferase activity was improved in serum and erythrocytes (EE: 09.96 ± 2.29), as were reduced glutathione levels (IMQ: 0.0021 ± 0.0007; EE: 0.0042 ± 0.001). In an imiquimod-induced psoriasis rat model, Ecballium elaterium balm reduced disease severity, oxidative stress, and inflammatory markers, with systemic biochemical changes. Despite these promising findings, this research is still in its early stages based on a single preclinical model.
D. N. Benmalek, F. E. El kadi, Aicha Benyahia et al.· Frontiers in Pharmacology· 0 citations
