Aspects of molecular medicine最新文献

{"title":"Evaluation of the KLF11 rs35927125 (Q62R) variant in relation to type 2 diabetes and dyslipidemia in a Kurdish Iranian population","authors":"Milad Shokrollah Nezhad ,&nbsp;Fatemeh Keshavarzi ,&nbsp;Danial Taghipour","doi":"10.1016/j.amolm.2026.100108","DOIUrl":"10.1016/j.amolm.2026.100108","url":null,"abstract":"<div><h3>Background</h3><div>Type 2 diabetes mellitus (T2DM) is a multifactorial metabolic disorder influenced by both environmental and genetic factors. The transcription factor KLF11 regulates insulin gene expression and metabolic pathways, and the rs35927125 (Q62R) variant has been proposed as a functional candidate influencing T2DM susceptibility. However, findings across populations have been inconsistent, and no data exist for Kurdish Iranians.</div></div><div><h3>Objectives</h3><div>To determine the frequency of the KLF11 rs35927125 (Q62R) variant in a Kurdish Iranian population and evaluate its association with T2DM and dyslipidemia.</div></div><div><h3>Methods</h3><div>In this case–control study, 200 adults with T2DM and 200 age-, sex-, and BMI-matched controls were recruited. Clinical and biochemical measurements were obtained after a 10–12-h fast. Genotyping was performed using ARMS-PCR with Sanger validation. Associations between rs35927125 and T2DM or dyslipidemia were assessed using multivariable logistic regression adjusted for age, sex, BMI, and diabetes status. Bonferroni correction was applied.</div></div><div><h3>Results</h3><div>Genotype frequencies were AA 88%, AG 10%, GG 2% in controls and AA 80%, AG 14%, GG 6% in cases. Controls were in Hardy–Weinberg equilibrium. No significant associations were observed between rs35927125 and T2DM under allelic, genotypic, dominant, or recessive models (all p &gt; 0.0125). Similarly, no associations were detected with hypertriglyceridemia, hypercholesterolemia, low HDL-C, or high LDL-C. Wide confidence intervals, particularly for the GG genotype, reflected the low minor allele frequency (0.11) and limited statistical power.</div></div><div><h3>Conclusion</h3><div>The rs35927125 (Q62R) variant in KLF11 was not associated with T2DM or dyslipidemia in this Kurdish Iranian cohort. However, the low frequency of the G allele and modest sample size limit the precision of effect estimates. Larger studies with greater representation of the minor allele are needed to clarify whether small or population-specific effects exist.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"7 ","pages":"Article 100108"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148167861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Innovative approaches in snakebite treatment: the need for precision antivenoms and next-generation diagnostics","authors":"Emeka John Dingwoke ,&nbsp;Umezuruike Linus Opara ,&nbsp;Fatima Adis Adamude ,&nbsp;Kingsley Onyekachi Moh ,&nbsp;Gilbert Adzemye Nsadzetsen ,&nbsp;Abdullahi Balarabe Sallau ,&nbsp;Emmanuel Oluwadare Balogun ,&nbsp;Amin Elsadig Eltayeb ,&nbsp;Ikenna Ezeaku ,&nbsp;John Wassagwa ,&nbsp;Sunday Egba Omogo ,&nbsp;Judith Chinelo Amailo ,&nbsp;Maryann Chidimma Enemmuo ,&nbsp;Okechukwu Kalu Iroha ,&nbsp;Chukwuemeka Paul Nweje-Anyalowu ,&nbsp;Chijioke Cyril Ilechukwu ,&nbsp;Augustina Chinyere Amaefula","doi":"10.1016/j.amolm.2026.100100","DOIUrl":"10.1016/j.amolm.2026.100100","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;Snakebite envenomation Snakebite envenomation is a major public health problem, affecting an estimated 1.8–2.7 million people annually, predominantly in low- and middle-income countries. Despite its classification as a neglected tropical disease by the World Health Organization, snakebite envenomation continues to cause substantial morbidity and mortality, driven in part by limited access to effective antivenoms, delays in treatment, and the lack of widely available rapid diagnostic tools. The marked biological complexity and geographic variability of snake venom composition further complicate clinical management, underscoring the need for innovative and context-appropriate approaches to improve both therapeutic effectiveness and diagnostic accuracy. This review examines recent advancements in regionally informed antivenom strategies and next-generation diagnostic technologies, emphasizing their necessity for achieving more precise, timely, and context-appropriate snakebite management.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;This review adopts a structured, critical narrative approach, synthesizing peer-reviewed literature and global health reports to evaluate recent innovations in antivenom development and snakebite diagnostics. Literature was identified using PubMed, Web of Science, and Scopus, with emphasis placed on studies published from 2010 onward, reflecting the period of rapid advances in venom omics, recombinant antivenoms, and diagnostic technologies. Searches were focused on terms directly relevant to the review's analytical scope, including &lt;em&gt;antivenom development&lt;/em&gt;, &lt;em&gt;venom proteomics&lt;/em&gt;, &lt;em&gt;transcriptomics&lt;/em&gt;, and &lt;em&gt;snakebite diagnostics&lt;/em&gt;. Rather than aiming for exhaustive coverage, studies were prioritized based on their relevance to therapeutic effectiveness, translational feasibility, scalability, and accessibility in snakebite-endemic settings. Findings were synthesized comparatively to identify key advances, persistent limitations, and barriers to clinical implementation.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Findings&lt;/h3&gt;&lt;div&gt;Recent advances in antivenom research include the development of recombinant antibody platforms, immunoinformatics-guided design strategies, synthetic biology approaches, and the characterization of endogenous venom resistance mechanisms, all of which have contributed to improved understanding of how specificity and immunogenicity might be optimized beyond conventional antivenoms. At the same time, progress in diagnostic research, particularly involving lateral flow–based immunoassays and multi-omic venom profiling, has highlighted potential pathways for improving venom or toxin identification and supporting more informed clinical decision making. However, translation of these scientific advances into routine clinical practice remains limited. Persistent challenges related to large-scale manufacturing, regulatory approval, affordability, and implementation within resource-constr","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"7 ","pages":"Article 100100"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146006722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting the LncRNA–Hippo axis in cancer with plant-derived compounds","authors":"Murtaza Jafari ,&nbsp;Rahmatullah Nazari ,&nbsp;Shaiyar Shahryar ,&nbsp;Mahbuba Hussain Zada","doi":"10.1016/j.amolm.2026.100107","DOIUrl":"10.1016/j.amolm.2026.100107","url":null,"abstract":"<div><div>Long non-coding RNAs (lncRNAs) have emerged as pivotal regulators of gene expression, playing essential roles in cancer initiation, progression, metastasis, and therapy resistance. Accumulating evidence indicates that lncRNAs interact closely with the Hippo signaling pathway, a key regulator of cell proliferation, apoptosis, and tissue homeostasis, whose dysregulation is frequently associated with tumor development. Recent studies have highlighted the potential of plant-derived phytochemicals to modulate lncRNA expression and influence Hippo pathway activity. Well-known compounds such as curcumin, resveratrol, quercetin, and berberine can regulate both oncogenic and tumor-suppressive lncRNAs, thereby affecting YAP/TAZ signaling and tumor progression. Despite promising preclinical findings, clinical translation remains limited due to poor bioavailability and stability of many phytochemicals. Nanotechnology-based delivery systems offer a promising solution by enhancing compound stability and targeted delivery. Collectively, these findings suggest that phytochemical-mediated modulation of the lncRNA–Hippo signaling axis could represent a novel and effective strategy for future cancer therapies.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"7 ","pages":"Article 100107"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148167860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ceapin-A7 counteracts the protective effects of Lanreotide in endothelial cells","authors":"Md Matiur Rahman Sarker,&nbsp;Saikat Fakir,&nbsp;Madan Sigdel,&nbsp;Nektarios Barabutis","doi":"10.1016/j.amolm.2026.100104","DOIUrl":"10.1016/j.amolm.2026.100104","url":null,"abstract":"<div><h3>Background</h3><div>Pulmonary endothelial barrier dysfunction is characterized by increased vascular permeability, lung edema, and impaired gas exchange. Synthetic somatostatin analogs (SSA), including Lanreotide (LAN), have demonstrated cytoprotective effects in experimental models of endothelial injury, but the corresponding mechanisms mediating those effects are still unclear.</div></div><div><h3>Objective</h3><div>This study aimed to determine whether the unfolded protein response (UPR) sensor ATF6 is involved in the protective outcomes of LAN in lung endothelial cells.</div></div><div><h3>Methods</h3><div>Human and bovine pulmonary endothelial cells were exposed to Ceapin-A7, an ATF6 inhibitor, prior to LAN exposure. Protein expression levels of BiP, Grp94, MLC2, Cofilin, STAT1, STAT3, and stress kinases were assessed. Reactive oxygen species (ROS) generation was also measured, as well as paracellular permeability using FITC-Dextran assay.</div></div><div><h3>Results</h3><div>LAN enhanced protein expression of BiP and Grp94, decreased ROS production, suppressed STAT1, STAT3 and ERK1/2 phosphorylation, and improved barrier function. Those effects were counteracted by Ceapin-A7.</div></div><div><h3>Conclusions</h3><div>Our findings suggest that ATF6 inhibition opposes the beneficial effects of LAN in endothelial cells.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"7 ","pages":"Article 100104"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147384688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Computational assessment of the chemical components of Swertia chirayita Roxb. ex Fleming targeting NSP13 of SARS-CoV-2","authors":"Jhashanath Adhikari Subin","doi":"10.1016/j.amolm.2026.100102","DOIUrl":"10.1016/j.amolm.2026.100102","url":null,"abstract":"<div><div>Due to the effectiveness and relatively lower toxicity at high dose levels, natural products have been practiced in different medicine systems since ancient times. It plays a vital role in prophylactics and therapeutics of many maladies and has been an accessible and affordable choice to modern medicines. For a possible treatment option for the current pandemic caused by SARS-CoV-2, various chemical components of <em>Swertia chirayita</em> Roxb. ex Fleming plant were explored by computational methods. The phytochemicals present in the plant, amaroswerin, amarogentin, mangiferin, oleanolic acid, syringaresinol, swertiamarin, and sweroside were proposed as the top candidates with probable inhibition capabilities determined in terms of docking scores/binding affinities against non-structural protein 13 (PDB ID: 5RMM) calculated from flexible receptor molecular docking. The values calculated were −17.2, −15.7, −14.9, −13.0, −13.6, −13.0, and −13.3 kcal/mol, respectively and were better than those calculated for some FDA approved drugs and a native ligand which showed values from −12.9 to −8.9 kcal/mol. From the 200 ns long molecular dynamics simulations of different protein-ligand adducts, it was found that oleanolic acid RMSD was less than 5 Å and snapshots at multiple instances displayed that it nearly retained the docked position with moderately smooth nature of the curve. These geometrical results implied acceptable structural stability of the protein-ligand adduct. The binding free energy change of protein-oleanolic acid complex (−32.72 ± 4.65 kcal/mol) was the best among the test cases. This thermodynamic parameter hinted at the spontaneous nature of the reaction and its frame-by-frame analysis complemented the geometrical results. The ADMET prediction revealed lipophilic nature and some toxicity end-points of the hit molecule, oleanolic acid. The results point towards the need for further extensive characterization of it by <em>in vitro</em> and <em>in vivo</em> methods in the development of anti COVID-19 drug from readily available plant with ethnobotanical values.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"7 ","pages":"Article 100102"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Virome remodeling rewires epigenetic and metabolic pathways linked to infection-associated colorectal cancer risk","authors":"Botle Precious Damane ,&nbsp;Jonathan Featherston ,&nbsp;Shakeel Kader ,&nbsp;Mohammed Alaouna ,&nbsp;Pragalathan Naidoo ,&nbsp;Zodwa Dlamini ,&nbsp;Zilungile Lynette Mkhize-Kwitshana","doi":"10.1016/j.amolm.2026.100103","DOIUrl":"10.1016/j.amolm.2026.100103","url":null,"abstract":"<div><h3>Background</h3><div>Colorectal cancer (CRC) incidence is rising in sub-Saharan Africa, coinciding with the high prevalence of immune-modulating infections such as HIV and helminths. The gut virome, a critical yet understudied component of the microbiome, may influence oncogenic processes through epigenetic and metabolic alterations. However, the interplay between gut viral communities, HIV-helminth co-infection, and CRC risk remains poorly characterized in African populations. This study aimed to investigate gut virome-associated epigenetic and metabolic signatures linked to CRC susceptibility among South African adults, with a focus on HIV and helminth co-infection dynamics.</div></div><div><h3>Methods</h3><div>Untargeted shotgun metagenomic sequencing was performed on stool DNA samples from 62 adults stratified into five groups: uninfected controls (n = 10), HIV-only (n = 14), helminth-only (n = 15), HIV-helminth co-infected (n = 13), and CRC-confirmed patients (n = 10). Bioinformatic analyses were used to identify differentially abundant viral genes and to functionally annotate epigenetic and metabolic pathways associated with infection status and CRC occurrence.</div></div><div><h3>Results and discussion</h3><div>Adenine-specific DNA methylase (COG2189) emerged as one of the most significantly enriched epigenetic markers across all infected and CRC groups, CRC (7.0 ± 1.26, q = 2.98e-06), helminth-only (7.1 ± 1.16, q = 1.30e-07), HIV-only (6.2 ± 1.21, q = 1.28e-05), and co-infected 6.5 ± 1.21, q = 6.11e-06), suggesting a shared viral epigenomic mechanism potentially contributing to tumorigenesis. Additionally, diverse metabolism-related genes were differentially abundant, particularly those linked to butyrate metabolism, oxidative stress response, and polyamine biosynthesis, metabolic pathways known to influence tumor initiation, immune evasion, and disease progression. These findings indicate that the gut virome may play an intermediary role in modulating host epigenetic and metabolic landscapes in infection-driven CRC risk.</div></div><div><h3>Conclusion</h3><div>This study identifies novel gut virome-associated epigenetic and metabolic functional signatures that may serve as early, non-invasive biomarkers of CRC susceptibility in HIV- and helminth-endemic populations. Integrating such molecular indicators into cancer surveillance and prevention frameworks could enhance early detection strategies and precision cancer care in underrepresented, high-infection burden African regions.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"7 ","pages":"Article 100103"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146174191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of an isothermal point of care method for detection of human papilloma virus (HPV)","authors":"Jean-Marc Zingg ,&nbsp;Pratibha Joshi ,&nbsp;Mercedes Lozano-Garcia ,&nbsp;Erin Kobetz ,&nbsp;Sapna Deo ,&nbsp;Sylvia Daunert","doi":"10.1016/j.amolm.2026.100101","DOIUrl":"10.1016/j.amolm.2026.100101","url":null,"abstract":"<div><div>Current commercial methods of detection of high-risk human papilloma virus (hrHPV) rely mostly on the polymerase chain reaction (PCR) that use either 14 specific primer pairs or a single consensus primer pair (e.g., GP5+/GP6+). However, PCR requires the use of a thermal cycler (PCR machine) and electricity and therefore is not suitable for a low-cost Point of Care Test (PoCT). Moreover, PCR primers are often not suitable for isothermal amplification since at lower temperature they may anneal non-specifically leading to background amplification. We have developed an isothermal point of care method for the rapid detection of hrHPV that works at a constant temperature (&lt;42°C) using recombinase polymerase amplification (RPA). A novel consensus primer pair was designed able to amplify all 14 hrHPV types. To enable the detection of the amplified double-stranded RPA products, one primer was labelled with a 5′-phosphate, and the other primer was labelled at the 5′-end with 6-carboxyfluorescein (FAM). Then, the double-stranded labelled RPA product was digested with Lambda exonuclease, which preferentially digests 5′-phosphorylated DNA ends whereas the 5′-FAM ends are protected, generating single-stranded 5′-FAM-labelled RPA products. These products can be detected by paper-based lateral flow assays (LFA) using biotinylated detection probes that detect all 14 hrHPV types at the same time (universal consensus detection probe). Lateral flow assay conditions were developed that allow these probes to detect all 14 hrHPV types. Using this novel isothermal rapid hrHPV detection method, amplification of all 14 hrHPV types at constant temperature (currently set at 37°C) within short time (&lt;1h) was achieved.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"7 ","pages":"Article 100101"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antioxidant, anti-inflammatory and cytotoxicity properties of medicinal plants used for producing herbal products against hepatic diseases in Ghana","authors":"Dongsogo Julius ,&nbsp;Larbie Christopher ,&nbsp;Appiah-Oppong Regina ,&nbsp;Emekpe Benjamin ,&nbsp;Daniel Ataanya Abera ,&nbsp;Yusif Mubarik ,&nbsp;Iddrisu Abdul-Mumeen","doi":"10.1016/j.amolm.2025.100093","DOIUrl":"10.1016/j.amolm.2025.100093","url":null,"abstract":"<div><div>Medicinal plants have become the option for management of liver diseases because of their availability, cost effectiveness and lesser side effects compared to pharmaceutical drugs. Various parts of plants including roots, leaves, stem, bark and seed have been reportedly used to treat liver diseases including jaundice, hepatitis, hepatosteatosis, hepatocellular carcinoma, hepatobillary disorders and hepatocellular carcinoma. Phytochemicals exhibit anti-oxidant and anti-inflammatory properties due to the presence of acidic polyhydroxyl groups in the phenols. These hydroxyl groups quench free radicals from oxygen, nitrogen and sulphur reactive species thereby inhibiting oxidative stress, inflammation and fibrogenic processes. The objective of the study was to determine the antioxidant, anti-inflammatory and cytotoxicity properties of medicinal plants for the purpose of selecting more efficacious raw materials for herbal products. Ethanolic and methanolic extracts of 13 medicinal plants were test for level of total phenols, flavonoids, 2, 2-diphenyl-1-picrylhydrazyl (DPPH) reducing potential, ferric reducing (FRAP), total antioxidant binding capacity (ABTS), red cell antihemolysis assay and 3-(4, 5-dimethylthiazolyl-2)-2, 5-diphenyltetrazolium bromide (MTT) cytotoxicity. Except for DPPH scavenging activity, there was significance of difference between the methanolic and ethanolic extracts, total phenols (p = 0.03), flavonoids (p = 0.024), FRAP (p = 0.02), ABTS (p = 0.00) and red cell hemolysis (p = 0.010). There was correlation between phytochemicals, phenols and flavonoids and antioxidant markers, DPPH, FRAP, ABTS and red cell hemolysis (p &lt; 0.05). Syzygium <em>aromaticum, Curcuma longa, Taraxacum officinalis</em> and <em>Moringa oleifera</em> exhibited the highest inhibitory anti-inflammatory and antioxidant properties. The study indicates that, phytochemical, antioxidant and inflammatory properties varied with the kind of plant, concentration of extract, extractant and polyphenol content. These properties should be evaluated in selecting materials for drug formulation.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"6 ","pages":"Article 100093"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144605604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"De novo assembly of an admixed South African genome and its clinical application to genetic susceptibility to tuberculosis","authors":"Anel Sparks ,&nbsp;Yolandi Swart ,&nbsp;Craig J. Kinnear ,&nbsp;Gian D. van der Spuy ,&nbsp;Gerard Tromp ,&nbsp;Brigitte Glanzmann ,&nbsp;Marlo Möller","doi":"10.1016/j.amolm.2025.100098","DOIUrl":"10.1016/j.amolm.2025.100098","url":null,"abstract":"<div><div>Despite ongoing efforts, the current human reference genome lacks diversity. Consequently, research using this resource might miss disease-causing variants in individuals whose ancestry does not correspond to that of the standard reference. Most individuals from South Africa are admixed to some extent, with ancestral contributions from several continental populations. This study set out to create a population-specific reference genome for admixed South Africans with the same coordinate system as the widely used GRCh38 reference. This approach was tested in diagnosing a South African individual with Mendelian susceptibility to mycobacterial disease (MSMD) using a novel approach that replaced portions of the reference genome with corresponding, but more variable portions of the population-specific sequences. We implemented the algorithm in a tool we named PopPatch. Short sequencing reads from two individuals were used for a rudimentary genome assembly which was then aligned to GRCh38p13. To test the algorithm and the generated reference genome, whole genome sequencing data from a TB-susceptible individual was aligned to SA_PopPatch and GRCh38, with variant call sets compared. The GRCh38p13 reference yielded no discoveries, while the SA_PopPatch reference identified a homozygous, non-synonymous single nucleotide variant in exon 20 of the <em>JAK1</em> gene. This project introduces a novel method for creating population-specific reference genomes that align with the standard reference, ensuring congruency with databases based on the most widely used reference genome, GRCh38, while minimizing additional costs.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"6 ","pages":"Article 100098"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145519715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurological mechanism of the dietary supplementations of lycopene on chemotherapy-induced cognitive dysfunction/chemobrain and hippocampal toxicity in the rat model","authors":"Sunday Aderemi Adelakun ,&nbsp;Jacob Adewale Siyanbade ,&nbsp;Akwu Bala Peter ,&nbsp;Mistura Abisola Salami ,&nbsp;Bisade Esther Adeyeluwa ,&nbsp;Opeyemi Zainab Kaka","doi":"10.1016/j.amolm.2025.100094","DOIUrl":"10.1016/j.amolm.2025.100094","url":null,"abstract":"<div><h3>Background</h3><div>Chemo-brain signifies the memory and cognitive challenges cancer patients encounter during and after chemotherapy. Lycopene (LP) is a naturally occurring carotenoid with potent anti-reactive oxygen species (ROS) characteristics. This study investigates the effect of Lycopene on Chemotherapy-induced cognitive dysfunction and hippocampal toxicity in rat models.</div></div><div><h3>Method</h3><div>Thirty Adult male Sprague-Dawley rats were divided into five groups of five (n = 6) rats each. Group A control received normal saline. Group B received a single dose of 10 mg/kg bwt cisplatin (CP, i.p.) on the first day. Group C received 100 mg/kg bwt of Lycopene (LP) (i.p) once daily. Group D received a single dose of 10 mg/kg CP (i.p.) on the first day, followed by 100 mg/kg bwt of LP (i.p) once daily. Group E was treated with 100 mg/kg bwt of LP (i.p) once daily, followed by a single dose of 10 mg/kg bwt CP (i.p.) on the last day. The experiment lasted for 28 days. Hippocampus histology, oxidative stress, neuro-inflammation, apoptotic markers, brain acetylcholinesterase (AChE) activity, and levels of dopamine (DA), gamma-aminobutyric acid GABA, and serotonin 5-HT were investigated.</div></div><div><h3>Results</h3><div>Lycopene attenuation of malondialdehyde and nitric oxide levels with elevated glutathione levels and intensified superoxide dismutase and catalase activities. Lycopene decreased the levels of inflammatory and apoptotic markers. In addition, LP reduced AChE activity, and elevated glial fibrillary acidic proteins increased neurotransmitter and brain-derived neurotrophic factors.</div></div><div><h3>Conclusion</h3><div>Lycopene protected chemobrain rats, decreasing inflammation and apoptosis, increasing antioxidant enzyme activities, and attenuating lipid peroxidation.</div></div>","PeriodicalId":72320,"journal":{"name":"Aspects of molecular medicine","volume":"6 ","pages":"Article 100094"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}