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Migraine, as the seventh most disabling neurological disease with 26.9% prevalence in Saudi females, lacks studies on identifying associated genes and pathways with migraines in the Arab population. This case control study aims to identify the migraine-associated novel genes and risk variants. More than 1900 Arab ancestry young female college students were screened: 103 fulfilled the ICHD-3 criteria for migraine and 20 cases confirmed in the neurology clinic were included for the study with age-matched healthy controls. DNA from blood samples were subjected to paired-end whole-exome sequencing. After quality control, 3365343 missense, frameshift, missense splice region variants and insertion–deletion (indels) polymorphisms were tested for association with migraine. Significant variants were validated using Sanger sequencing. A total of 17 (p-value 9.091 × 10−05) functional variants in 12 genes (RETNLB, SCAI, ADH4, ESPL1, CPT2, FLG, PPP4R1, SERPINB5, ZNF66, ETAA1, EXO1 and CPA6) were associated with higher migraine risk, including a stop-gained frameshift (-13-14*SX) variant in the gene RETNLB (rs5851607; p-value 3.446 × 10−06). Gene analysis revealed that half of the significant novel migraine risk genes were expressed in the temporal lobe (p-value 0.0058) of the cerebral cortex. This is the first study exploring the migraine risk of 17 functional variants in 12 genes among Saudi female migraineurs of Arab ancestry using whole-exome sequencing. Half of the significant genes were expressed in the temporal lobe, which expands migraine pathophysiology and early identification using biomarkers for research possibilities on personalised genetics. [ABSTRACT FROM AUTHOR]

Background: Mitochondrial DNA (mtDNA) mutations have been reported in multiple neurological diseases and helped to explain the pathophysiology of these diseases. Similarly, variations in mtDNA might exist in migraine and can explain the effect of low ATP production in the neurons on the initiation of migraine attack. Therefore, in the current study we aim to explore the association of mtDNA mutations on migraine in the Saudi population. Subjects and Methods: Over 1950 young Saudi female students were screened for migraine, among that a total of 103 satisfied the ICHD-3 criteria. However,  20 migraine cases confirmed in the neurology clinic and gave consent to participate in the study. Another 20 age-matched healthy controls were also recruited. Mitochondrial sequence variations were filtered from exome sequencing using NCBI GenBank Reference Sequence: NC_012920.1 and analysed using MITOMAP. Genes with significant single nucleotide polymorphisms (SNPs) were investigated by the gene functional classification tool DAVID and functional enrichment analysis of protein–protein interaction networks through STRING 11.5 for the most significant associated genes. Results: Genome wide analysis of the mitochondrial sequence variations between the patients with migraine and control revealed the association of 30 SNPs (p < 0.05) in the mitochondrial genome. The highest significance (p = 0.001033) was observed in a coding SNP (rs1603225278) in the CYTB gene and rs386829281 in the region of origin of replication. Twenty-four significant SNPs were in the coding region of nine (ND5, ND4, COX2, COX1, ND3, CYTB, COX3, ND2 and ND1) genes. Conclusion: This is the first study to demonstrate the association of mtDNA variations with migraine in the Saudi population. The current findings will help to highlight the significance of mtDNA mutations to migraine pathophysiology and will serve as a reference data for larger national and international studies. [ABSTRACT FROM AUTHOR]

Background: Hepatitis C virus (HCV) and hepatitis B virus (HBV) infections pose significant global health concerns, contributing to chronic liver diseases. Blood transfusion is identified as a potential route for the transmission of these viruses, necessitating effective screening strategies for blood donors. The aim of this study was to assess the significance of nucleic acid testing (NAT) in detecting HBV and HCV infections among blood donors who initially tested negative in serological tests. Additionally, the study aimed to determine the seroprevalence of HBV and HCV infections among blood donors in Hail., Methods: A total of 23,954 records were retrieved from voluntary blood donors at Hail Regional Laboratory and Blood Bank from January 2020 to April 2023. ‎Chi-squared tests were used to assess the association between the serological and NAT results, while t-tests were employed to compare the means of continuous variables., Results: Numbers of the reactive ELISA serological methods or screening were 36 (0.15%) for HBs Ag, 931 (3.6%) for HBcAb, 57 (0.23%) for HBsAb, and finally, 57 (0.23%) for HCV Ab. Seroprevalence was low, with a prevalence rate of 0.15% for HBV and 0.23% for HCV. The study compared serological and nucleic acid testing results for hepatitis B and C infections; a small percentage (0.01%) showed reactive NAT results, indicating early acute infections that may have been missed by serological testing alone., Conclusions: The study concludes that incorporating NAT into blood screening protocols is crucial for enhancing early infection detection and reducing risk of transfusion-transmitted infections. Low seroprevalence rate suggests effectiveness of existing preventive measures.