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A novel de novo WDR45 frameshift variant in early-onset developmental and epileptic encephalopathy with atypical MRI features 具有非典型MRI特征的早发性发育性和癫痫性脑病中一种新的WDR45移码变异
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-12-08 DOI: 10.1016/j.genrep.2025.102410
Firoz Ahmad , Sapna Sandal , Pradnya Gadgil , Suhani Shah , Amisha Shah , Meenu Angi , Pooja Chaudhary , Spandan Chaudhary , Neeraj Arora
{"title":"A novel de novo WDR45 frameshift variant in early-onset developmental and epileptic encephalopathy with atypical MRI features","authors":"Firoz Ahmad ,&nbsp;Sapna Sandal ,&nbsp;Pradnya Gadgil ,&nbsp;Suhani Shah ,&nbsp;Amisha Shah ,&nbsp;Meenu Angi ,&nbsp;Pooja Chaudhary ,&nbsp;Spandan Chaudhary ,&nbsp;Neeraj Arora","doi":"10.1016/j.genrep.2025.102410","DOIUrl":"10.1016/j.genrep.2025.102410","url":null,"abstract":"<div><div>We report a 4-year-1-month-old female who presented with a complex neurodevelopmental disorder featuring early-onset epilepsy and global developmental delay. Seizures began at 9 months, progressing to multiple types (focal, clonic, and automatisms) with electroencephalogram (EEG) evidence of left hemispheric dysfunction. Developmental milestones were severely delayed, and examination revealed microcephaly, dysmorphism (frontal bossing, café-au-lait spot), and right sensorineural hearing loss. Brain Magnetic Resonance Imaging (MRI) showed left-predominant atrophy, hippocampal sclerosis, and left temporal white-matter hyperintensity. Whole exome sequencing (WES) identified a novel <em>de novo</em> heterozygous pathogenic frameshift variant in <em>WDR45</em> NM_001029896.2:c.229_230del;p.(Ile77Leufs*36), confirming a diagnosis of neurodegeneration with brain iron accumulation type 5 (NBIA5). The variant, absent in parents and population databases, was classified as pathogenic (American College of Medical Genetics and Genomics (ACMG): PVS1, PS2, PM2_supporting). This case highlights the utility of WES in diagnosing childhood epileptic encephalopathies with atypical neuroimaging and expands the mutational spectrum of <em>WDR45</em>-related disorders. The findings underscore the importance of genetic testing in neurodevelopmental disorders with dysmorphism and refractory epilepsy.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102410"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733253","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}
引用次数: 0
Antibacterial and antibiofilm activity of Piper cubeba extract against uropathogenic Escherichia coli, modulating csgA and fimH genes expression 胡椒提取物对尿路致病性大肠杆菌的抑菌和抗生物膜活性及其对csgA和fimH基因表达的调节作用
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2026-01-23 DOI: 10.1016/j.genrep.2026.102436
Zahraa F. Al-Kabi , Hasan A. Aal Owaif
{"title":"Antibacterial and antibiofilm activity of Piper cubeba extract against uropathogenic Escherichia coli, modulating csgA and fimH genes expression","authors":"Zahraa F. Al-Kabi ,&nbsp;Hasan A. Aal Owaif","doi":"10.1016/j.genrep.2026.102436","DOIUrl":"10.1016/j.genrep.2026.102436","url":null,"abstract":"<div><h3>Introduction</h3><div>Urinary tract infections (UTIs) are a communal health problem that millions of people around the world are affected each year. <em>Escherichia coli</em>, particularly uropathogenic <em>E. coli</em> (UPEC) represent the most related bacteria that cause both complicated and uncomplicated UTIs. As the global threat posed by multidrug-resistant (MDR) <em>E. coli</em> and other organisms to public health, new therapies are needed to control these antibiotic-resistant bacteria. Plant extracts are promising and effective alternative solution in combating antibiotic resistance. In the present study we aimed to investigate the antimicrobial and biofilm inhibition properties of <em>Piper cubeba</em> methanol extract against UPEC.</div></div><div><h3>Methods</h3><div>Fifty-two of UPEC isolates were obtained from 100 urine samples and examined for biofilm formation and antibiotic susceptibility. Methanolic extraction of <em>P. cubeba</em> was carried by Soxhlet. Gas chromatography–mass spectrometry (GC–MS) was used to identify the phytochemical compounds present in <em>P. cubeba</em> extract. Minimum inhibitory concentration (MIC), antibiofilm, antimicrobial activity, and effect on the <em>csgA</em> and <em>fimH</em> genes expression were determined against clinically isolated UPEC.</div></div><div><h3>Results</h3><div>GC–MS analysis revealed 11 active components. The extract exhibited antimicrobial effect against four MDR isolates that display strong biofilm potential. After treatment with the extract, all the isolates had reduced biofilm formation and up-regulated <em>csgA</em> and <em>fimH</em> genes expression.</div></div><div><h3>Conclusion</h3><div>We showed that <em>P. cubeba</em> extract has significant antimicrobial properties, along with strong biofilm inhibitory potential.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102436"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146073917","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}
引用次数: 0
A transcriptomic atlas of macauba palm reveals organ-specific gene expression and stress-related pathways 澳门棕榈的转录组图谱揭示了器官特异性基因表达和应激相关途径
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-11-20 DOI: 10.1016/j.genrep.2025.102390
Lucas Miguel de Carvalho , Bárbara Regina Bazzo , Camila Carlos-Shanley , Carlos Augusto Colombo , Gonçalo Amarante Guimarães Pereira , Marcelo Falsarella Carazzolle
{"title":"A transcriptomic atlas of macauba palm reveals organ-specific gene expression and stress-related pathways","authors":"Lucas Miguel de Carvalho ,&nbsp;Bárbara Regina Bazzo ,&nbsp;Camila Carlos-Shanley ,&nbsp;Carlos Augusto Colombo ,&nbsp;Gonçalo Amarante Guimarães Pereira ,&nbsp;Marcelo Falsarella Carazzolle","doi":"10.1016/j.genrep.2025.102390","DOIUrl":"10.1016/j.genrep.2025.102390","url":null,"abstract":"<div><div>The macauba palm (<em>Acrocomia aculeata</em>) is an emerging oilseed species with promising applications in biodiesel production, as well as in food and cosmetic industries. Native to the Neotropics, it is in the early stages of domestication and distributed across diverse environments and edaphoclimatic conditions. However, genomic studies of macauba are limited due to the scarcity of publicly available sequence data, as it is considered a non-model plant. In this study, we present an exploratory analysis of a transcriptome dataset comprising seven different organs (roots, bulbs, male and female flowers, leaves, leaf sheath, and fruits). A total of 22,703 transcripts were assembled into a single reference dataset. Of these, 9729 transcripts (42.85 %) were annotated using KEGG orthology. Gene expression profiling revealed 306, 32, 41, 67, 92, 158 and 916 organ-specific transcripts in leaves, leaf sheaths, bulbs, female flower, male flower, fruit and root, respectively. Comparative analysis with oil palm (<em>Elaeis guineensis</em>) and date palm (<em>Phoenix dactylifera</em>) revealed 55 gene families exclusive to macauba palm. In addition, 221 transcripts related to drought stress were identified through functional annotation and grouped into 112 gene families. Root libraries revealed 7091 fungal transcripts - approximately 3.9 % of all reads – mainly derived from arbuscular mycorrhizal fungi (AMF) Rhizophagus spp. These findings highlight the central role of signal transduction pathways in response to environmental stresses in macauba palm. The transcriptome dataset generated in this study provides a valuable genomic resource for future genotype-phenotype investigations in macauba palm. Furthermore, the presence of AMF-associated transcripts suggests a potentially important role for these symbiotic fungi in macauba palm growth and development.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102390"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145621828","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}
引用次数: 0
Genes to jaws: A systematic review uncovering the role of genetics in malocclusion 基因对颌骨:一个系统的回顾揭示了遗传学在错颌畸形中的作用
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-11-20 DOI: 10.1016/j.genrep.2025.102388
T.P. Chaturvedi , Riddhi Mishra , Vipul Kumar Sharma , A.V. Aparna , Sakshee Nagvanshi
{"title":"Genes to jaws: A systematic review uncovering the role of genetics in malocclusion","authors":"T.P. Chaturvedi ,&nbsp;Riddhi Mishra ,&nbsp;Vipul Kumar Sharma ,&nbsp;A.V. Aparna ,&nbsp;Sakshee Nagvanshi","doi":"10.1016/j.genrep.2025.102388","DOIUrl":"10.1016/j.genrep.2025.102388","url":null,"abstract":"<div><h3>Background</h3><div>The etiology of malocclusion is multifactorial. The genetic basis of the development of malocclusion is well established in the literature. Therefore, this systematic review aims to evaluate the genetic basis underlying the development of malocclusion.</div></div><div><h3>Material and methods</h3><div>Several renowned electronic databases were searched with predefined eligibility criteria. Two independent reviewers performed the study selection and data extraction process. The JBI critical appraisal tool was used to evaluate the quality of the included studies.</div></div><div><h3>Results</h3><div>After a rigorous selection process, a total of 19 studies met all criteria and were included in the systematic review. We observed that the notable genes, such as MYO1H, ADAMTS1, DLX6, and VDR, have shown consistent associations with specific malocclusion subtypes.</div></div><div><h3>Conclusion</h3><div>The results of the present study pave the way for incorporating genetic insights into clinical orthodontics, particularly for conditions like primary failure of eruption and syndromic malocclusions.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102388"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145621832","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}
引用次数: 0
Whole-exome sequencing identifies a novel splicing variant within TBC1D32 causing dysmorphic features and growth hormone deficiency 全外显子组测序在TBC1D32中发现了一种新的剪接变异,导致畸形特征和生长激素缺乏
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-11-20 DOI: 10.1016/j.genrep.2025.102389
Milad Gholami , Mahshid Fattahi , Dorsa Rostampour , Saeedeh Sadat Mir-Abdolhagh , Maryam Maktabi , Soudeh Ghafouri-Fard
{"title":"Whole-exome sequencing identifies a novel splicing variant within TBC1D32 causing dysmorphic features and growth hormone deficiency","authors":"Milad Gholami ,&nbsp;Mahshid Fattahi ,&nbsp;Dorsa Rostampour ,&nbsp;Saeedeh Sadat Mir-Abdolhagh ,&nbsp;Maryam Maktabi ,&nbsp;Soudeh Ghafouri-Fard","doi":"10.1016/j.genrep.2025.102389","DOIUrl":"10.1016/j.genrep.2025.102389","url":null,"abstract":"<div><div><em>TBC1D32</em> gene has a role in ciliary function and Sonic Hedgehog signaling. Pathogenic variants within this gene have been associated with hypopituitarism, ciliopathy and a range of dysmorphic features. Here, we used whole exome sequencing to find the molecular basis of dysmorphic features in a patient who presented with craniofacial phenotypes, intellectual disability, and growth hormone deficiency. Our results show that the patient carried a novel variant in the intron 27 of <em>TBC1D32</em> gene (c.3054-2A &gt; T). Based on the ACMG criteria, it is likely pathogenic. Thus, the current study broadens the spectrum of <em>TBC1D32</em>-related phenotypes.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102389"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145621829","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}
引用次数: 0
Hyperglycemia elevates oxidative stress markers without triggering mitochondrial large-scale deletions in peripheral blood leukocytes of type 2 diabetes patients 高血糖会升高2型糖尿病患者外周血白细胞的氧化应激标志物,而不会引发线粒体大规模缺失
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-11-14 DOI: 10.1016/j.genrep.2025.102385
Tejas Tajane , Prafulla Ambulkar , Pranita Waghmare , Bharati Taksande , Jwalant Waghmare
{"title":"Hyperglycemia elevates oxidative stress markers without triggering mitochondrial large-scale deletions in peripheral blood leukocytes of type 2 diabetes patients","authors":"Tejas Tajane ,&nbsp;Prafulla Ambulkar ,&nbsp;Pranita Waghmare ,&nbsp;Bharati Taksande ,&nbsp;Jwalant Waghmare","doi":"10.1016/j.genrep.2025.102385","DOIUrl":"10.1016/j.genrep.2025.102385","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to assess whether hyperglycemia-mediated reactive oxygen species (ROS) can cause a long-range deletion in the mitochondrial genome.</div></div><div><h3>Methods</h3><div>We assessed oxidative damage byproducts, such as 8-hydroxydeoxyguanosine (8-OHdG) and malondialdehyde (MDA), in blood serum samples using the Enzyme-linked Immunosorbent Assay (ELISA) method in diabetes and healthy cohorts. In addition, the long-range mtDNA deletion (ΔmtDNA<sup>4977</sup>) assay was used to evaluate mtDNA deletions in peripheral blood leucocytes of type 2 diabetes patients. The Receiver Operating Characteristic (ROC) curve was computed to analyse the relationship between oxidative markers in the study groups.</div></div><div><h3>Result</h3><div>Serum 8-OHdG (34.44 ± 1.17 ng/mL) and MDA (65.90 ± 3.15 μmol/L) levels were significantly higher (<em>p</em> &lt; 0.0001) in the diabetic group compared to the healthy controls (18.72 ± 0.71 ng/mL and 43.60 ± 2.47 μmol/L, respectively). The prevalence of hypertension also differed significantly between groups (<em>p</em> &lt; 0.0001) and appeared to be positively associated with elevated 8-OHdG levels. However, ΔmtDNA<sup>4977</sup> was not detected in the peripheral blood leucocytes of either study group. The ROC curve analysis indicated that 8-OHdG exhibited greater diagnostic accuracy than MDA for distinguishing diabetic patients, demonstrating higher specificity and a larger area under the curve (AUC).</div></div><div><h3>Conclusion</h3><div>Hyperglycemia elevated oxidative markers but failed to induce ΔmtDNA<sup>4977</sup> in peripheral blood leucocytes. There was no ostensible association between ΔmtDNA<sup>4977</sup> and diabetes mellitus.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102385"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145532934","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}
引用次数: 0
CRISPR-mediated modulation of EGFR signaling in breast cancer crispr介导的EGFR信号在乳腺癌中的调节
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2026-01-16 DOI: 10.1016/j.genrep.2026.102432
Alireza Soleimani , Soudeh Ghafouri-Fard
{"title":"CRISPR-mediated modulation of EGFR signaling in breast cancer","authors":"Alireza Soleimani ,&nbsp;Soudeh Ghafouri-Fard","doi":"10.1016/j.genrep.2026.102432","DOIUrl":"10.1016/j.genrep.2026.102432","url":null,"abstract":"<div><div>The epidermal growth factor receptor (EGFR) family contributes to the pathogenesis of human cancers, particularly breast cancer. EGFR signals lead to activation of a number of downstream signaling cascades, including those related with Ras, PI3K, JNK, and PLCγ. These cascades ultimately result in cell proliferation and induction of invasive characteristics. Targeted therapy against EGFR members has been well established in breast cancer. However, the success rate has been found to be varied among different subtypes and resistance has been reported in many patients as a primary event or during the course of treatment. CRISPR technology, as a revolutionary genome editing technology has facilitated modeling of different mutations, discovery of novel genes that contribute to cancer progression or treatment resistance, and design of more selective and effective treatments. This review discusses the achievements and challenges of implementation of this technique in the field of breast cancer to find the mechanism of EGFR signaling in breast cancer and underlying causes of resistance to EGFR-targeted therapies.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102432"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146073855","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}
引用次数: 0
A heavy metal tolerant Thiopseudomonas alkaliphila strain as a potential plant growth promoter isolated from Bengaluru region 一株从班加罗尔地区分离的耐重金属嗜碱硫代假单胞菌作为潜在的植物生长促进剂
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2026-01-04 DOI: 10.1016/j.genrep.2025.102425
Rashmi Ramalingegowda , Manjula Nagalapur Gadilingappa , Shilpa Borehalli Mayegowda , Sahana M , Vikramadhithya T , Muthukumaran , Sachin D. H
{"title":"A heavy metal tolerant Thiopseudomonas alkaliphila strain as a potential plant growth promoter isolated from Bengaluru region","authors":"Rashmi Ramalingegowda ,&nbsp;Manjula Nagalapur Gadilingappa ,&nbsp;Shilpa Borehalli Mayegowda ,&nbsp;Sahana M ,&nbsp;Vikramadhithya T ,&nbsp;Muthukumaran ,&nbsp;Sachin D. H","doi":"10.1016/j.genrep.2025.102425","DOIUrl":"10.1016/j.genrep.2025.102425","url":null,"abstract":"<div><div><em>Thiopseudomonas alkaliphila</em>, a Pseudomonadaceae has diverse environmental role that has not been much explored. Current study highlights, the isolated strain from industrial sites of Bengaluru with heavy metal tolerance against lead, chromium and cadmium. The antibiotic susceptibility test (AST) and minimum inhibitory concentration (MIC) showed sensitive against all the antibiotics used in the study. Subsequently, 16s rRNA analysis established and closely related to <em>T. alkaliphila</em> D2441 strain<em>,</em> whole genome was submitted, GenBank SRA database accession number is as follows PRJNA1258058. The unravelling of genetic determinants analyzed for heavy metals, antibiotic resistance and plant growth promoting traits were compared with related strains. A single chromosome with 2,400,551 bp length, average GC ratio 49.44 % and with 1941 protein-encoding genes (PEGs), the strain can bioremediate different heavy metals (354 genes/proteins), along with an aptitude as plant growth promoting rhizobacteria (PGPR) evidenced by genes showcasing tolerance against adverse environmental conditions under stress for phytohormones, plant nutrient acquisition, heat and shock chaperones, siderophore etc. The study highlights, <em>T. alkaliphila</em> as a non-pathogenic, potential heavy metal remediator with potential activity for PGPR traits at genetic levels.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102425"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145921113","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}
引用次数: 0
Caloric restriction modulates liver transcriptomes in an age-dependent manner in C57BL/6 N mice 在C57BL/6 N小鼠中,热量限制以年龄依赖的方式调节肝脏转录组
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-12-02 DOI: 10.1016/j.genrep.2025.102398
Lisha Wei , Yikai Huang , Junyi Zheng , Xuemin Xu , Jian Hong , Dehui Sun , Yanyan Zheng , Xiuke Ouyang
{"title":"Caloric restriction modulates liver transcriptomes in an age-dependent manner in C57BL/6 N mice","authors":"Lisha Wei ,&nbsp;Yikai Huang ,&nbsp;Junyi Zheng ,&nbsp;Xuemin Xu ,&nbsp;Jian Hong ,&nbsp;Dehui Sun ,&nbsp;Yanyan Zheng ,&nbsp;Xiuke Ouyang","doi":"10.1016/j.genrep.2025.102398","DOIUrl":"10.1016/j.genrep.2025.102398","url":null,"abstract":"<div><div>Caloric restriction (CR) is a well-established dietary intervention that promotes longevity and metabolic health; however, its age-dependent transcriptional effects on the liver remain unclear. Here, we aimed to delineate how CR remodels the hepatic transcriptome across 4, 9, 13, and 18 months of age in male C57BL/6 N mice and to determine whether the transcriptional response to CR is progressively attenuated in old age. We performed RNA sequencing on liver tissues from mice maintained on control or CR diets at 4, 9, 13, and 18 months of age to characterize transcriptional remodeling across aging.</div><div>Age was the primary determinant of global expression variance, whereas CR induced distinct, age-specific gene expression changes. The strongest responses occurred at 9 and 13 months, where CR upregulated genes related to circadian regulation, fatty acid metabolism, DNA replication, and repair, while suppressing inflammatory and lipogenic pathways. By 18 months, CR effects were attenuated, although circadian and metabolic signatures remained evident.</div><div>Functional enrichment analyses revealed consistent activation of PPARα-associated lipid metabolism, bile acid homeostasis, and circadian rhythm pathways, accompanied by repression of type I interferon-mediated immune signaling. Together, these findings show that CR elicits dynamic, age-dependent transcriptional reprogramming in the liver, enhancing metabolic and genomic maintenance programs in midlife (9–13 months) and dampening inflammatory responses, with reduced plasticity observed at 18 months. These findings suggest that CR exerts its strong and most multifaceted effects on hepatic metabolic and immune pathways in midlife, but that these transcriptional benefits become substantially blunted in old age, highlighting the importance of the timing of dietary interventions during the aging process.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102398"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681585","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}
引用次数: 0
Epigenetic regulation in metabolic diseases and neuronal regeneration: Mechanisms, interactions, and therapeutic perspectives 代谢疾病和神经元再生中的表观遗传调控:机制、相互作用和治疗观点
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-12-04 DOI: 10.1016/j.genrep.2025.102400
Koyel Kar , Priyanka Chakraborty , Sailee Chowdhury , Kamal Singh , Mahendra Pratap Singh , Sandeep Kumar Singh
{"title":"Epigenetic regulation in metabolic diseases and neuronal regeneration: Mechanisms, interactions, and therapeutic perspectives","authors":"Koyel Kar ,&nbsp;Priyanka Chakraborty ,&nbsp;Sailee Chowdhury ,&nbsp;Kamal Singh ,&nbsp;Mahendra Pratap Singh ,&nbsp;Sandeep Kumar Singh","doi":"10.1016/j.genrep.2025.102400","DOIUrl":"10.1016/j.genrep.2025.102400","url":null,"abstract":"<div><div>Neuronal damage in mammals often results in irreversible loss of function due to the limited regenerative capacity of the central nervous system. In contrast, lower vertebrates possess an intrinsic ability to regenerate neural tissue, providing valuable insight into potential repair mechanisms. Recent advances have revealed that epigenetic mechanisms—heritable yet reversible modifications that regulate gene expression without altering the DNA sequence—play a central role in orchestrating neuronal repair and regeneration.</div><div>This review focuses on the epigenetic regulation of neuronal regeneration, emphasizing how processes such as DNA methylation, histone modifications, and chromatin remodeling influence gene activation, glial responses, and stem cell reprogramming following neural injury. We discuss three major neural systems of therapeutic relevance—the spinal cord, inner ear, and neural retina—highlighting tissue-specific differences in regenerative potential and their underlying epigenetic signatures.</div><div>Furthermore, the review explores how epigenetic interventions, including inhibitors of histone deacetylases (HDACs) and DNA methyltransferases (DNMTs), can reactivate dormant regenerative pathways. Understanding these dynamic and reversible molecular processes may enable the design of targeted therapies that enhance plasticity and promote functional recovery in non-regenerative tissues.</div><div>By integrating current knowledge and identifying key knowledge gaps, this work underscores the transformative potential of epigenetic modulation as a therapeutic strategy to overcome the regenerative limitations of the mammalian nervous system.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102400"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145786483","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}
引用次数: 0
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