Molecular Biology Reports最新文献

{"title":"Genome-wide identification of socs gene in rainbow trout (Oncorhynchus mykiss) and response to microplastic exposure.","authors":"Fang Ma, Wenli Wang, Jiaxuan Dong, Xiangjun Zhou, Zhiyun Lin, Pan Zheng, Xiajiao Nian, Lili Dong","doi":"10.1007/s11033-025-10601-4","DOIUrl":"https://doi.org/10.1007/s11033-025-10601-4","url":null,"abstract":"<p><strong>Background: </strong>To investigate the response of the suppressor of the cytokine signaling (socs) gene family in rainbow trout following exposure to microplastics, this study conducted a bioinformatics analysis of the socs gene family using rainbow trout genome data, complemented by experiments involving microplastic exposure and gene expression detection.</p><p><strong>Methods and results: </strong>The findings revealed that the rainbow trout SOCS gene family comprises 27 members, encoding proteins with lengths ranging from 110 to 837 amino acids. Analyses of motifs, domains, and gene structures indicate that members of this family are highly conserved. RNA sequencing data demonstrated that, following microplastic exposure, the expression levels of socs1, socs2, socs3, socs5, socs6, socs7, and cish in the liver, intestine, and brain tissues of rainbow trout underwent significant changes. Additionally, RT-qPCR results indicated that the expression levels of several socs genes were down-regulated, whereas socs1a, socs1b, socs7a1, socs7b1, and socs7b2 exhibited significant up-regulation. These genes may play crucial roles in the response to microplastic exposure in rainbow trout.</p><p><strong>Conclusion: </strong>This study elucidates the involvement of the socs gene family members in the context of microplastic exposure, providing valuable insights into the underlying toxicological mechanisms and enhancing our understanding of the threats posed by plastic pollution to freshwater organisms.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"486"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120246","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":"Genetic association between SKA2 rs7208505 and preterm birth in Korean women.","authors":"Eun Jo Lee, Sung Ho Han, Yun Dan Kang, Jong Soo Kim, Jin Wan Park, Han Jun Jin","doi":"10.1007/s11033-025-10594-0","DOIUrl":"10.1007/s11033-025-10594-0","url":null,"abstract":"<p><strong>Background: </strong>Preterm birth (PTB) is defined as delivery before 37 weeks of gestation. The incidence of PTB in Korea is steadily increasing. PTB is a complex disorder influenced by genetic and environmental factors such as stress, maternal age. Elevated stress levels during pregnancy have been reported to increase cortisol concentrations, a known risk factor for PTB. Recent studies have found an association between PTB and the SKA2 gene, which plays a role in regulating stress response and cortisol levels. In particular, the SKA2 rs7208505 polymorphism has been reported to be associated with PTB risk and elevated cortisol concentrations. We conducted a genetic association study between the SKA2 rs7208505 polymorphism and PTB in Korean women.</p><p><strong>Methods and results: </strong>In this study, we conducted a case-control study including 116 PTB patients and 160 controls. Genotypes were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). A significant difference in overall genotype distribution was observed between the patients with PTB and control groups (p = 0.011). We also found that the SKA2 rs7208505 G/A genotype increased the risk of PTB (OR = 1.94; 95% CI, 1.104-3.220; p_adj = 0.042). In addition, overdominant model analysis confirmed that the G/A genotype was associated with an increased risk of PTB (OR = 2.07; 95% CI, 1.274-3.366; p_adj = 0.018).</p><p><strong>Conclusion: </strong>Our findings suggest that the SKA2 rs7208505 polymorphism is associated with an increased risk of PTB in Korean women. Further replication studies in larger cohorts and additional analyses of genetic markers are warranted to validate these findings.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"488"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120296","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":"Synergistic effects and mechanism of recombinant viral vector-mediated STAT1 overexpression and STAT3 silencing on glioma U251 apoptosis.","authors":"Xin-Long Hu, Hong Li, Guo-Dong Zhang, Chao Lin, Ping Huang, Xiu-Feng Chen, Fang Wan, Chang-Wu Dou, Hai-Tao Ju","doi":"10.1007/s11033-025-10585-1","DOIUrl":"10.1007/s11033-025-10585-1","url":null,"abstract":"<p><strong>Background: </strong>In the present study, the synergistic effects and mechanism of recombinant viral vector-mediated co-expression plasmids stat1 and stat3-siRNA on glioma were investigated in vivo and in vitro.</p><p><strong>Methods: </strong>Co-expression plasmids for stat1/stat3-siRNA were constructed and packaged into lentivirus and adenovirus for cell and animal experiments. Real-time PCR and Western blot analyses were used to detect the expression of STAT1 and STAT3 at gene and protein levels in U251 cells. CCK-8, TUNEL, flow cytometry, and cell scratching assays were performed to detect the therapeutic effect of the co-expression plasmid stat1/stat3-siRNA on glioma in vitro. U251 glioma cells were injected into nude mice to observe therapeutic effect of stat1/stat3-siRNA.Transcriptome sequencing was utilized to further explore the possible mechanism.</p><p><strong>Results: </strong>Treatment of glioma cells and xenograft animal model with the co-expression plasmid stat1/stat3-siRNA led to a significant increase in STAT1 and a marked decrease in STAT3 expression at both mRNA and protein expression levels. Compared to the single-gene stat1 and stat3-siRNA groups, stat1/stat3-siRNA group demonstrated a more pronounced promoting apoptosis of U251, but cell viability and migration, as well as reduced tumor growth in nude mice were not significant. Transcriptome sequencing results indicated that the modulation of multiple nodes within the FOXO signaling pathway may represent the main mechanism by which co-expression of lenti-stat1/stat3-SiRNA induces U251 cell apoptosis.</p><p><strong>Conclusions: </strong>The co-expression plasmid stat1/stat3-siRNA significantly induces apoptosis more effectively than individual stat1 and stat3-siRNA constructs. The potential mechanism involves the alternation of multiple nodes in the FOXO signaling pathway.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"482"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12098210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of IKZF1 rs4132601 and Δ4-7 somatic deletion in acute lymphoblastic leukemia: a bioinformatics and case-control study.","authors":"Ismail Soltani, Wael Bahia, Chaker Slaymi, Hanene Gharbi, Yosra Hasni, Salima Ferchichi, Samia Menif, Wassim Y Almawi","doi":"10.1007/s11033-025-10608-x","DOIUrl":"https://doi.org/10.1007/s11033-025-10608-x","url":null,"abstract":"<p><strong>Objectives: </strong>IKZF1 is a key regulator of lymphocyte differentiation, and its alterations are associated with increased risk and poor outcomes in acute lymphoblastic leukemia (ALL). This study examines the association of IKZF1 rs4132601 polymorphism and Δ4-7 somatic deletion with the susceptibility to ALL while also analyzing their molecular implications through bioinformatics.</p><p><strong>Methods: </strong>This case-control study was conducted on 58 pediatric patients diagnosed with ALL and 150 healthy controls. Genotyping for the IKZF1 rs4132601 variant was performed by PCR followed by sequencing, while the Δ4-7 deletions were identified using multiplex PCR. Bioinformatics analyses were used to calculate the difference in free energy of hybridization for each wild-type vs. the variant allele and analyze potential disruptions in putative miRNA-binding sites of IKZF1 3'UTR and changes in RNA secondary structure.</p><p><strong>Results: </strong>The presence of the rs4132601 G allele was significantly associated with a reduced risk of ALL development [OR(95%ci), 0.36(0.19,0.69)], and a strong association with the Δ4-7 deletion was noted [RR(95%ci), 8.33(1.57-10.69)]. The rs4132601 polymorphism disrupts miRNA binding sites, particularly miR-1261, miR-524-3p, and miR-525-3p, potentially impairing post-transcriptional control of IKZF1. Bioinformatics analyses further indicate that the G allele stabilizes the RNA secondary structure, which hinders normal IKZF1 post-transcriptional regulation and promotes leukemogenesis.</p><p><strong>Discussion: </strong>Our study underscores the association between the rs4132601 polymorphism and Δ4-7 deletion and heightened risk of pediatric ALL. We favor the notion that the rs4132601G allele contributes to leukemogenesis by affecting miRNA-mediated regulation and RNA structural stability. These findings support the potential of IKZF1-targeted, miRNA-based therapies in pediatric ALL.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"487"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120251","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":"Autophagy mediated immune response regulation and drug resistance in cancer.","authors":"Anupriya Bandyopadhyay, Samraj Sinha, Rajdeep Roy, Nabendu Biswas","doi":"10.1007/s11033-025-10573-5","DOIUrl":"https://doi.org/10.1007/s11033-025-10573-5","url":null,"abstract":"<p><p>Autophagy is a critical regulator of cellular homeostasis. The proteins involved in autophagy orchestrate the functions to strike the balance between cell survival and cell death in context-specific situations like aging, infections, inflammation and most importantly carcinogenesis. One of the major dead-locks in cancer treatment is the development of resistance to the available drugs (multi-drug resistance) as well as immune-suppressions in patients. Different studies over time have shown that autophagy is being involved in chemotherapy by working hand in hand with apoptosis or drug resistance through proliferative signals. Resistance to various drugs, such as, Cisplatin, Vincristine, Tamoxifen (TAM) occurs by epigenetic modifications, changed expression levels of microRNAs (miRNAs/miRs), and long non-coding RNAs (lncRNAs), which are regulated by the aberrant autophagy levels in lung, and breast cancers. More interestingly in the tumour microenvironment the immune suppressor cells also bring in autophagy in different pathway regulations either helping or opposing the whole carcinogenesis process. Macrophages, T cells, B cells, dendritic cells (DCs), neutrophils, and fibroblasts show involvement of autophagy in their differentiation and development in the tumor microenvironment (TME). Here, this extensive review for the first time tries to bring under a single canopy, several recent examples of autophagy-mediated immune regulations and autophagy-mediated epigenetically regulated drug resistance in different types of cancers.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"492"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120292","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":"Comparative genomic analysis of cassava rhizospheric Bacillus subtilis using integrated in vitro and in silico approaches with enterobacterial repetitive intergenic consensus (ERIC) sequences.","authors":"Supajit Sraphet, Chaisri Tharasawatpipat, Sivapan Choo-In, Pantip Kayee, Sirilak Namwong, Tanakwan Budsabun, Bagher Javadi","doi":"10.1007/s11033-025-10593-1","DOIUrl":"https://doi.org/10.1007/s11033-025-10593-1","url":null,"abstract":"<p><strong>Background: </strong>Bacillus subtilis is a beneficial rhizobacterium extensively used in agriculture and industry due to its abilities in promoting plant growth and decomposing organic matter. To enhance its application potential, precise genetic characterization of native strains, particularly those associated with crop rhizospheres, is crucial.</p><p><strong>Methods and results: </strong>This study focused on B. subtilis isolates obtained from the cassava rhizosphere. Genetic diversity among the isolates was assessed using the Enterobacterial Repetitive Intergenic Consensus (ERIC)-PCR method. Genomic DNA was extracted and amplified, with ERIC-PCR effectively differentiating strains based on unique banding patterns. Whole-genome sequencing and database comparisons further validated the strain identities and revealed significant genetic variation. While a few isolates shared high similarity (≥ 99.5%), the majority exhibited lower similarity levels (< 70%), indicating considerable genomic diversity. Several genes-spoVAF, spoVAEA, spoVAEB, spoVAD, hisIE, hisF, hisA, rsbRB, thiW, ispA, and thiX-were identified as potential markers for strain differentiation and functional characterization.</p><p><strong>Conclusions: </strong>ERIC-PCR proved to be a reliable and efficient method for discriminating B. subtilis strains from the cassava rhizosphere. The observed genetic diversity suggests a rich reservoir of functional traits among native strains, offering new opportunities for targeted applications in plant-microbe interactions, such as biofertilization and biocontrol. These findings provide a foundation for the strategic use and further study of B. subtilis in sustainable agriculture.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"489"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120293","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":"Ectopic expression of miR-34a/-328 sensitizes breast cancer stem cells to gamma rays/doxorubicin by BCL2/ABCG2 targeting.","authors":"Somayeh Dehghan Kouhestani, Saeed Khalili, Abdolah Razi, Mehdi Aghili, Mehdi Forouzandeh Moghadam","doi":"10.1007/s11033-025-10581-5","DOIUrl":"https://doi.org/10.1007/s11033-025-10581-5","url":null,"abstract":"<p><strong>Purpose: </strong>In the present study, we aim to identify novel molecular targets for sensitizing Breast cancer stem cells (BCSCs) to common antitumor treatments. MicroRNAs (miRNAs) play key roles in pivotal cellular processes. Therefore, modulating the expression of these miRNAs may lead to increased sensitivity of BCSCs to current treatments or overcome their therapeutic resistance. Due to their pivotal roles in the regulation of apoptosis (via BCL2) and chemoresistance (via ABCG2) and their differential expression in BCSCs (compared to non-BCSCs), miR-34a and miR-328 were selected for analysis.</p><p><strong>Methods: </strong>BCSCs were propagated and characterized. Then, the expression levels of miRNAs, which are associated with treatment resistance (miR-21, -34a, -328, -128, -200c, Let-7i), were quantified in BCSCs and non-BCSCs before and after treatment with doxorubicin (DOX) and radiation. BCSCs were subsequently transduced with recombinant lentiviruses that contained miR-34a or miR-328 to sensitize these cells to DOX- and radio-treatment, respectively. The effects of miR-34a or miR-328 overexpression on apoptosis induction after irradiation or DOX treatment were assessed by flow cytometry analysis.</p><p><strong>Results: </strong>Ectopic expression of miR-34a or miR-328 in BCSCs, respectively, decreased the BCL2 and ABCG2 expression levels compared to untreated cells. Furthermore, overexpression of miR-34a or miR-328 in BCSCs led to increased susceptibility to apoptosis induced by radiation or DOX treatment, respectively.</p><p><strong>Conclusion: </strong>It could be concluded that miR-34a or miR-328 could effectively increase radiation- or DOX-induced cell apoptosis by negatively regulating Bcl-2 or ABCG2 expression levels in BCSCs, respectively. Hence, ectopic expression of these miRNAs could sensitize BCSCs to irradiation and DOX treatment.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"490"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120295","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":"Anti-infertility roles of flavonoids: insights into the female reproductive system.","authors":"Morteza Abdi, Hadi Karimzadeh, Amirreza Jourabchi, Amin Khameneh, Ali Abedelahi","doi":"10.1007/s11033-025-10579-z","DOIUrl":"https://doi.org/10.1007/s11033-025-10579-z","url":null,"abstract":"<p><p>Female infertility is a complex and multifactorial disease affecting millions of women worldwide, wherein oxidative stress and inflammation play major roles in its pathophysiology. Flavonoids, a class of polyphenolic compounds derived from plants, show promise in alleviating infertility-related disorders such as polycystic ovary syndrome (PCOS), endometriosis, and uterine implantation abnormalities. The antioxidant and anti-inflammatory properties of flavonoids can be useful in overcoming oxidative damage and disturbances of inflammatory conditions within the reproductive system. Key flavonoids, including quercetin and apigenin, have demonstrated the ability to regulate hormonal imbalances, enhance follicular development, and improve oocyte quality. Flavonoids may also act by interacting with essential inflammatory and hormonal pathways to suppress the synthesis of pro-inflammatory cytokines while increasing antioxidant defenses. The integration of flavonoid-based strategies with conventional treatments opens up promising avenues in improving reproductive outcomes and advancing fertility therapies. This review will highlight the molecular mechanisms underlying the efficacy of flavonoids and point out their potential as nutraceutical interventions in the management of female infertility.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"495"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127660","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":"Mapping the complexity of multiple sclerosis: a novel perspective on genetic, environmental, and neurobiological insights.","authors":"Ameneh Omidi, Amin Zolfaghari, S Mohammadhadi Mirab, Maedeh Hasanzadeh Bafghi, Masoumeh Khosravi, Fatemeh Safdari, Kobra Shirani","doi":"10.1007/s11033-025-10572-6","DOIUrl":"https://doi.org/10.1007/s11033-025-10572-6","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is the most common chronic demyelinating disease of the central nervous system (CNS) that mainly affects young adults. MS is a neuroinflammatory disease traditionally classified as an autoimmune disorder; however, its exact cause remains unknown. A wide variety of etiology and risk factors have been proposed to contribute, among which genetics and environment are the leading ones. The heterogeneity of MS can be attributed to a variety of factors, including diverse pathobiological mechanisms. In this narrative review, before discussing the most prevalent etiologies of MS and risk factors, we look at the main neurobiological pathways, blood-brain barrier (BBB) breakdown, and glymphatic system dysfunction. Several intrinsic factors, including genetics and epigenetic implications, hormones, immune system dysregulation, age, and microbiome, have definite roles in developing and worsening MS severity. However, external factors like viruses, bacteria, bioclimate impacts, environmental toxins, lifestyle factors, stress, and psychological factors revealed different or controversial impacts on MS disease. On the other hand, some nascent ones, such as intestinal dysbiosis and COVID-19, need to be further experimentally and clinically investigated. Both may contribute to MS by promoting inflammation and triggering autoimmune responses. Although it assumes that more than one factor contributes to MS development, finding the leading underlying cause and, consequently, the probable involvement mechanisms certainly could help take appropriate, efficient, and personalized therapeutic strategies.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"484"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120248","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":"A novel likely pathogenic variant in the mitochondrial ribosomal protein L44 (MRPL44) associated with hypertrophic cardiomyopathy in Tunisian patients.","authors":"Rania Gargouri, Nihel Ammous-Boukhris, Manel Hssairi, Amor Mosbah, Mariem Jabeur, Wiem Feki, Zeineb Mnif, Raja Mokdad-Gargouri, Leila Abid, Lamia Gargouri","doi":"10.1007/s11033-025-10556-6","DOIUrl":"10.1007/s11033-025-10556-6","url":null,"abstract":"<p><strong>Background: </strong>Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic heart disease with a wide range of clinical manifestations, from asymptomatic cases to heart failure and sudden cardiac death.</p><p><strong>Objectives: </strong>To identify the disease-causing variants in patients with severe HCM by carrying on clinical examination and genetic analysis through 2 generations in a single family.</p><p><strong>Patients and methods: </strong>Family 'members underwent comprehensive cardiovascular examinations. Whole-exome sequencing was carried on the proband, a girl of five-years old followed by co-segregation and in silico analyses.</p><p><strong>Results: </strong>The proband harboured a homozygous variant, NM_022915.5: c.198_205delinsTA; p.(Trp66_His69 delinsCysAsn), in the MRPL44 gene, leading to a shorter protein. This variant is novel, being absent in ClinVar and Human Gene Mutation Database (HGMD) and classified as VUS according to American College of Medical Genetics and Genomics (ACMG) criteria. Co-segregation analyses revealed that the proband's parents and her sister were heterozygous carriers, her other sister was wild-type, and her affected brother was homozygous for the mutation. In silico analysis showed significant structural differences in the mutated mL44 protein, disrupting its interaction with ribosomal complex components and impairing translation and protein synthesis.</p><p><strong>Conclusions: </strong>This study reports a novel MRPL44 variant associated with HCM in a Tunisian family. This finding expands current knowledge of genetic variations linked to mitochondrial cardiomyopathy and highlights the importance of genetic testing for diagnosis and management of cardiomyopathy.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"483"},"PeriodicalIF":2.6,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120290","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}