Molecular Biology Reports最新文献

{"title":"Mechanistic exploration of ubiquitination-mediated pathways in cerebral ischemic injury.","authors":"Supriya Khanra, Shareen Singh, Thakur Gurjeet Singh","doi":"10.1007/s11033-024-10123-5","DOIUrl":"10.1007/s11033-024-10123-5","url":null,"abstract":"<p><p>The ubiquitin-proteasome system (UPS) plays a pivotal role in regulating protein homeostasis and cellular processes, including protein degradation, trafficking, DNA repair, and cell signaling. During cerebral ischemia, ischemic conditions profoundly disrupt UPS activity, leading to proteasomal dysfunction and the accumulation of abnormal proteins. This imbalance contributes to neuronal injury and cell death observed in ischemic stroke. The UPS is intricately linked to various signaling pathways crucial for neuronal survival, inflammation, and cellular stress response, such as NF-κB, TRIM, TRIP, JAK-STAT, PI3K/Akt, and ERK1/2. Alterations in the ubiquitination process can significantly impact the activation and regulation of these pathways, exacerbating ischemic brain injury. Therapeutic approaches targeting the UPS in cerebral ischemia aim to rebalance protein levels, reduce proteotoxic stress, and mitigate neuronal injury. Strategies include proteasome inhibition, targeting specific ubiquitin ligases and deubiquitinating enzymes, and modulating ubiquitination-mediated regulation of key signaling pathways implicated in ischemia-induced pathophysiology. Therefore, the present review discusses the molecular mechanisms underlying UPS dysfunction in ischemic stroke is crucial for developing effective therapeutic interventions. Modulating ubiquitination-mediated pathways through therapeutic interventions targeting specific UPS components holds significant promise for mitigating ischemic brain injury and promoting neuroprotection and functional recovery in patients with cerebral ischemia.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"22"},"PeriodicalIF":2.6,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leveraging next-generation sequencing technology for the study of ginsenosides biosynthesis and exploring DNA markers in the endemic species Panax vietnamensis.","authors":"Nhan Hoang Dang, Nguyen Hoai Nguyen","doi":"10.1007/s11033-024-10118-2","DOIUrl":"10.1007/s11033-024-10118-2","url":null,"abstract":"<p><p>Panax species, particularly Panax ginseng, Panax quinquefolius, and Panax vietnamensis are renowned for their medicinal properties and economic value. Of these, the endemic P. vietnamensis species (native to Vietnam, Laos, and southern China) is currently receiving focused attention due to its special ginsenosides accumulation in comparison to the others. Recent advances in next-generation sequencing (NGS) technologies have accelerated the molecular genetic studies in this Panax species, providing deeper insights into the ginsenosides biosynthesis pathway as well as other aspects such as genetic diversity and molecular evolution. This work aims to systematically review all studies on the application of NGS in P. vietnamensis, particularly in whole-genome sequencing and transcriptome analysis. These key findings significantly contribute to identifying critical genes involved in ginsenosides biosynthesis, developing various DNA markers (such as SSR and SNP) for molecular genetic studies, and gaining insights into the species' molecular evolution. Based on these findings, future research can further expand to complete the full genomic database of this species and further investigate the underlying regulatory mechanisms of ginsenosides biosynthesis. These efforts will be crucial for enhancing the conservation, molecular breeding, and agricultural productivity of this valuable medicinal species.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"20"},"PeriodicalIF":2.6,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142730670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fission yeast Bsd1 is required for ER stress response in Ire1 independent manner.","authors":"Pinaki Prasad Mahapatra, Shakil Ahmed","doi":"10.1007/s11033-024-10121-7","DOIUrl":"https://doi.org/10.1007/s11033-024-10121-7","url":null,"abstract":"<p><strong>Background: </strong>Endoplasmic reticulum plays a central role in protein folding and cellular detoxification. NEDD4, a HECT E3 ubiquitin ligase, has been implicated in endoplasmic reticulum stress in humans. In this study, we have explored the role of S. pombe Bsd1, an ortholog of mammalian Ndfip1 (NEDD4 interacting protein 1) in tunicamycin-induced stress response pathway.</p><p><strong>Methods and results: </strong>Bsd1, an ortholog of mammalian NEDD4 interacting protein 1 (Ndfip1) plays a protective role against tunicamycin-induced ER stress. The confocal microscopy using GFP tagged Bsd1 revealed its localization to the membrane, with a more pronounced signal in the presence of tunicamycin. Additionally, the expression analysis showed a two-fold increase in the expression of Bsd1 after 4 h exposure to tunicamycin. Furthermore, acridine orange/ ethidium bromide staining and MTT assay revealed an increase in apoptotic cell death in bsd1Δ as compared to wild type cells after treatment with ER stressors. Compared to the wild type, we observed punctate FM4-64 staining in bsd1Δ cells in the presence of tunicamycin suggesting a significant loss of vacuolar structures. In a genetic interaction analysis, we observed enhanced sensitivity of tunicamycin in bsd1Δ ire1Δ double mutant as compared to each single mutant, suggesting the role of Bsd1 in the tunicamycin-induced ER stress response might be independent of the Ire1 pathway.</p><p><strong>Conclusion: </strong>Our study has implicated the role of fission yeast Bsd1 in ER stress response in an Ire1 independent pathway. Further, we have shown its role in apoptotic cell death and the maintenance of vacuolar structures.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"19"},"PeriodicalIF":2.6,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142730705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of grape H3K27 methyltransferase genes and their expression profiles during grape fruit ripening.","authors":"Ding-Ding Zuo, Hao-Ting Sun, Lu Yang, Fang-Hui-Zi Shang, Da-Long Guo","doi":"10.1007/s11033-024-10117-3","DOIUrl":"https://doi.org/10.1007/s11033-024-10117-3","url":null,"abstract":"<p><strong>Background: </strong>H₂O₂ treatment can accelerate grape ripening and mediate changes in histone methylation levels. Histone methylation, as an epigenetic modification, is involved in regulating the expression of genes related to fruit ripening, including H3K27ac, H3K4me1, H3K27me3 and H3K4me3. Among them, H3K27me3 methylation is generally negatively regulated in development, and H3K27 methyltransferase can participate in the development process of fruit by regulate the level of H3K27me3. The H3K27 methyltransferase members in grapes are not yet clear, and a better understanding of their functions contributes to regulating fruit development.</p><p><strong>Methods and results: </strong>By analyzing the conserved domains of the grape genome, three H3K27 methyltransferases were identified and named as VvH3K27-1, VvH3K27-2 and VvH3K27-3, respectively. Further analysis included their conserved domains, gene structure, phylogenetic relationship, protein physicochemical properties, chromosome localization, subcellular localization, and cis-acting elements in the promoter region. It is worth noting that all H3K27 methyltransferase genes have a highly conserved SET domain. VvH3K27-2 was localized in the nucleus and H₂O₂ treatment resulted in a decrease in the expression of these genes.</p><p><strong>Conclusion: </strong>Three H3K27 methyltransferase genes were identified in grape, which are down-regulated during berry development, and their expression is inhibited by H₂O₂ treatment. Thus, H3K27 methyltransferase genes are involved in the regulation of fruit development.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"21"},"PeriodicalIF":2.6,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142730666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitochondrial miRNAs and fibromyalgia: new biomarker candidates.","authors":"Khayala Rasulova, Banu Dilek, Deniz Evrim Kavak, Melek Pehlivan, Sefa Kizildag","doi":"10.1007/s11033-024-10110-w","DOIUrl":"10.1007/s11033-024-10110-w","url":null,"abstract":"<p><strong>Introduction / objective: </strong>Fibromyalgia syndrome (FMS), affecting 3-10% of the population, presents a challenge due to its complex symptomatology. Mitochondrial miRNAs (mitomiRs) are highlighted for their significant role in metabolic disorders. This study aimed to assess demographic data in Primer FMS patients and explore potential targets through mitomiR profiling.</p><p><strong>Methods: </strong>In our study, we examined 17 FMS patients and 18 controls, chosen based on specific criteria. Mitochondria were isolated from PBMCs in patient/control blood samples using the MACS method. Mitochondrial purity was verified through RT-qPCR and Western Blot. Following this, we extracted microRNAs and analyzed the levels of 3 mitochondrial miRNAs linked to oxidative stress (mitomiR-145-5p, mitomiR-23a-3p, mitomiR-223-3p) using RT-qPCR.</p><p><strong>Results: </strong>It was found that pain (P < 0.0001), fatigue (P = 0.0005), sleep quality (P < 0.0001), and depression (P < 0.0001) scores were significantly different in the FMS patient group compared to the control group. But the average BMI values have no difference compared to the control group (p = 0.7473). For the first time, a significant increase in mitomiR-145-5p was observed in the PBMCs of FMS patients compared to the control group (p = 0.0010). There was no significant difference observed in the gene expression levels of mitomiR-223-3p (p = 0.1623) and mitomiR-23a-3p (p = 0.4897).</p><p><strong>Conclusion: </strong>We demonstrated that mitomiR-145-5p plays a significant role in the progression of FMS pathology. Our study offers new insights, suggesting that mitochondrial miRNAs may have roles in FMS patients, which has not been previously investigated in the literature, thus providing a fresh perspective on the condition.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"16"},"PeriodicalIF":2.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Survey sequencing and flow cytometry reveal the genomic characteristics and genetic markers of six wild sweetpotato species.","authors":"Yao Wang, Yitong Deng, Shizhuo Xiao, Lukuan Zhao, Zhilin Zhou, Yanli Chen, Qinghe Cao","doi":"10.1007/s11033-024-10116-4","DOIUrl":"https://doi.org/10.1007/s11033-024-10116-4","url":null,"abstract":"<p><strong>Background: </strong>The lack of genomic and genetic research on wild sweetpotato species has hindered the advancement of sweetpotato variety development through modern crop improvement techniques.</p><p><strong>Methods and results: </strong>To facilitate the use of genomic and genetic approaches in sweetpotato variety development, we conducted a comprehensive assessment of the genome size and ploidy of six closely related wild sweetpotato species using flow cytometry and chromosome counting. Additionally, we acquired insights into their genomic characteristics through high-throughput sequencing. Based on the 17-mer frequency distribution, the genome sizes of these species ranged from 518.47 Mb to 1,505.04 Mb. Notably, most diploid species exhibited genome sizes of approximately 500 Mb, with the diploid wild species I. purpurea standing out as having a significantly larger genome size compared to other diploid species. A substantial proportion of repeats (ranging from 57.47 to 81.07%) was identified across the genomes of the six species. Heterozygosity levels varied from 0.24 to 2.21%. SSR analysis revealed that the distribution of microsatellite patterns was largely consistent among the genomes of I I. lacunosa, I. tenuissima, and I. tiliacea, with mono-, di-, and trinucleotide motifs dominated by A/T, AT/AT, and AAT/ATT, respectively, indicating a strong A/T base preference. SNPs in this study were unevenly distributed across chromosomes, and non-synonymous SNVs in exonic accounted for 3.199% of the total number of SNPs, which may lead to genetic functional variation between species. In addition, the cross-regional annotation of SNPs highlights the diversity of gene regulatory regions and may provide insights into gene regulation, the underlying genetics of complex traits, and genetic differences between species.</p><p><strong>Conclusion: </strong>The current data reinforce the established positive correlation between genome size and ploidy in the genus Ipomoea. In particular, the diploid I. purpurea had a larger genome compared to other diploid species. The genome survey indicated that I. lacunosa(2x), I. tiliacea(2x), and I. tenuissima(2x) possess simple genomes with low heterozygosity (0.36%, 0.37%, and 0.24%, respectively). In contrast, I. purpurea(2x) has a simple genome but exhibits high heterozygosity (1.95%), while I. tabascana(4x) and I. trifida(6x) have complex genomes with high heterozygosity (2.21% and 1.54%, respectively). These results provide a reasonable basis for the selection of whole genome sequencing strategies for these species and would provide references for research into the genetic diversity of wild relatives of sweetpotato.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"14"},"PeriodicalIF":2.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterisation of cytochrome c oxidase-coding genes from mung bean and their response to cadmium stress based on genome-wide identification and transcriptome analysis.","authors":"Yan Leng, Zhuan-Bin Niu, Shao-Hua Liu, Fu-Jun Qiao, Gui-Fang Liu, Bin Cheng, Shi-Weng Li","doi":"10.1007/s11033-024-10102-w","DOIUrl":"https://doi.org/10.1007/s11033-024-10102-w","url":null,"abstract":"<p><strong>Background: </strong>Cytochrome c oxidase (COX) is a crucial mitochondrial enzyme in the electron transport chain of plants, implicated in energy production and stress responses. Despite its importance, the function of COX in leguminous plants, especially under heavy metal stress like cadmium (Cd), remains understudied.</p><p><strong>Methods and results: </strong>In this study, COX genes (COX s) were identified based on the genome annotation file in mung bean (Vigna radiata (Linn.) R. Wilczek), and the gene structure, physicochemical properties and systematic relationships of the relevant amino acid sequences were analyzed by using bioinformatics method. The effects of Cd on the transcription levels and activities of COX in mung bean roots, stems, and leaves were detected to understand the mechanism of COX in mung bean in response to cadmium (Cd) stress. Transcriptome sequencing revealed tissue-specific expression with roots showed the highest levels. Cd stress significantly altered the expression and activity of VrCOXs, particularly in roots and stems, with varied responses among different genes.</p><p><strong>Conclusions: </strong>The differential response of VrCOX s to Cd stress indicates a role in the plant stress tolerance mechanism. The study provides insights into the function of COXs in legumes and a foundation for further research into Cd tolerance mechanisms, which could be vital for enhancing legume production and ensuring food safety in contaminated environments.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"17"},"PeriodicalIF":2.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytotoxic activity of silver nanoparticles prepared by eco-friendly synthesis using Lythrum salicaria extract on breast cancer cells.","authors":"Seyed Ataollah Sadat Shandiz, Atieh Hashemi, Niloufar Rezaei, Babak Haghani, Fahimeh Baghbani-Arani","doi":"10.1007/s11033-024-10092-9","DOIUrl":"https://doi.org/10.1007/s11033-024-10092-9","url":null,"abstract":"<p><strong>Background: </strong>Metal nanoparticles (NPs) have widely been investigated due to their several applications in therapeutic activities. The current investigation highlights the cytotoxic effects of the eco-friendly phytosynthesis route for silver nanoparticles using Lythrum salicaria (L. salicaria) extract (AgNPs-LS).</p><p><strong>Methods and results: </strong>The change in color from colorless to brown confirmed the reduction of silver ions to AgNPs. x-ray diffraction (XRD) analysis demonstrated high crystallinity. The surface morphology of AgNPs-LS was spherical, and their average sizes were 50 nm. energy-dispersive x-ray analysis (EDAX) confirmed that silver was the predominant component, indicating the involvement of L. salicaria plant extract in the green synthesis process. In vitro dimethyl thiazolyl tetrazolium bromide (MTT) assay showed significant cytotoxicity of AgNPs-LS against MCF7 cells, with an IC₅₀ of 113 µg mL^- 1. In contrast, AgNPs-LS showed minimal cytotoxicity to HEK293 cells (IC₅₀: 254 µg mL^- 1), demonstrating a higher sensitivity of cancer cells to AgNPs-LS. Moreover, AgNPs-LS resulted in MCF7 cells producing reactive oxygen species (ROS) and undergoing cell cycle arrest at the G2/M phase, serving as barriers to the proliferation of cancer cells. Annexin V fluorescein isothiocyanate (FITC) assays and fluorescence microscopy confirmed the induction of apoptosis in MCF7 cells by AgNPs-LS. Gene expression analysis revealed upregulated pro-apoptotic genes (Bax, p53, caspase-3, and caspase-9) and downregulated an anti-apoptotic gene (Bcl2) in michigan cancer foundation7 (MCF7) cells treated with AgNPs-LS.</p><p><strong>Conclusion: </strong>These results indicate that AgNPs-LS induced apoptosis via the intrinsic pathway (mitochondrial-mediated mechanism) and involved p53-dependent regulation. The current study results implied that AgNPs-LS fabricated by a bio-green approach could be helpful to the future of nanomedicine.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"18"},"PeriodicalIF":2.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and characterization of a novel upstream promoter of zebrafish p53 gene.","authors":"Xiaoying Tian, Zhongqiu Zhu, Wenjuan Li, Junfang Zhang, Bingshe Han","doi":"10.1007/s11033-024-10112-8","DOIUrl":"https://doi.org/10.1007/s11033-024-10112-8","url":null,"abstract":"<p><strong>Background: </strong>It is widely acknowledged that the p53 gene can be expressed as multiple isoforms with different functions, however the transcriptional mechanism of p53 still needs further investigation. Here we identified an elevated transcription signal about 3.6 kb upstream of the p53 promoter in cold acclimated zebrafish ZF4 cells.</p><p><strong>Methods and results: </strong>Through rapid amplification of cDNA ends (RACE), an unreported p53 transcript was cloned, which is transcribed from a novel upstream promoter about 3.6 kb from the canonical p53 promoter. This Novel p53 transcript includes a novel 5'untranslated region (5'UTR) transcribed from the - 3.6 kb region, which is followed by the coding sequences (CDS) encoding wild type (WT) p53 protein. This Novel p53 transcript showed remarkably enhanced stability than WT p53 and Δ113p53 mRNAs, when its novel 5'UTR showed the lowest translation efficiency in luciferase assay. Novel p53 transcript is differentially expressed in various tissues and during different stages of embryonic development of zebrafish. Novel p53 transcript also showed different responses to different stimuli.</p><p><strong>Conclusions: </strong>A novel upstream promoter about 3.6 kb from the canonical P1 promoter of zebrafish p53 gene was found, which transcribes a novel p53 transcript that contains a new 5'UTR and the CDS encoding WT p53 protein. The findings of our study will enhance the current knowledge on the regulation and functionality of the p53 gene in fish.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"15"},"PeriodicalIF":2.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular analysis of mucopolysaccharidosis type VI in Iranian patients; the influence of founder effect and consanguinity.","authors":"Athena Askarizadeh, Seyed Mehdi Kalantar, Javad Mohiti-Ardakani, Ali Moradi, Mahtab Ordooei","doi":"10.1007/s11033-024-10124-4","DOIUrl":"https://doi.org/10.1007/s11033-024-10124-4","url":null,"abstract":"<p><strong>Background: </strong>Mucopolysaccharidosis type VI (MPS VI), also known as Manteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme arylsulfatase B(ARSB). This syndrome is progressive and affects many tissues and organs, leading to inflammation and scarring. The classic clinical features of Maroteaux-Lamy syndrome are significant impairment of the osteoarticular system with dysostosis multiplex, short stature and motor dysfunction. The rate at which symptoms appear and worsen can vary between affected individuals. Mutations in the ARSB gene are responsible for MPS VI. We investigated the clinical presentation and molecular basis of patients with MPS VI for the first time in Yazd province, Iran.</p><p><strong>Methods: </strong>Of the 52 people who took part in this project, there were 13 probands. Whole exome sequencing (WES) was performed in 2 of them and the nominated mutation in the ARSB (c.430G > A) was verified by Sanger sequencing in the remaining patients.</p><p><strong>Results: </strong>All patients had parental consanguinity, except for one family in which the parents were unrelated. All patients were of Fars ethnicity and had characteristic phenotypes such as severe short stature, cardiac involvement, coarse facial features, and corneal opacities. Sequence analysis of the ARSB gene revealed a pathogenic homozygous missense mutation c.430G > A (p. Gly144Arg) in all patients. This type of mutation influenced the phenotypes of the severe patients.</p><p><strong>Conclusions: </strong>These results expand the genetic databases of Iranian patients with MPS VI and would be very helpful for the high-risk families to accelerate the detection of carriers and to perform prenatal testing for the disorder in this population in a cost-effective manner. There is a possibility that other unknown mutations are responsible for the disease. The decision to screen for and detect carriers of this disease at a national level is awaited. The results of the present study could be an asset for married families in part of the city of Meybod. The results offer a way for early detection of patients and carriers of the disease.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"11"},"PeriodicalIF":2.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}