Journal of neurogenetics最新文献

{"title":"Simultaneous recording of spikes and calcium signals in odor-evoked responses of <i>Drosophila</i> antennal neurons.","authors":"Yiyi Xiao, Shiuan-Tze Wu, Yinan Xuan, Scott A Rifkin, Chih-Ying Su","doi":"10.1080/01677063.2025.2561596","DOIUrl":"https://doi.org/10.1080/01677063.2025.2561596","url":null,"abstract":"<p><p>Most insects, including agricultural pests and disease vectors, rely on olfaction for key innate behaviors. Consequently, there is growing interest in studying insect olfaction to gain insights into odor-driven behavior and to support efforts in vector control. Calcium imaging using GCaMP fluorescence is widely used to identify olfactory receptor neurons (ORNs) responsive to ethologically relevant odors. However, accurate interpretation of GCaMP signals in the antenna requires understanding both response uniformity within an ORN population and how calcium signals relate to spike activity. To address this, we optimized a dual-modality recording method combining single-sensillum electrophysiology and widefield imaging for <i>Drosophila</i> ORNs. Calcium imaging showed that homotypic ab2A neurons exhibit similar odor sensitivity, consistent with spike recordings, indicating that a single ORN's response can reliably represent its homotypic counterparts. Furthermore, concurrent dual recordings revealed that peak calcium responses are linearly correlated with spike activity, regardless of imaging site (soma or dendrites), GCaMP variant, odorant, or fly age. These findings validate the use of somatic calcium signals as a reliable proxy for spike activity in fly ORNs and provide a foundation for future large-scale surveys of spike-calcium response relationships across diverse ORN types.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-11"},"PeriodicalIF":2.0,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145251118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of whole genome sequence data shows association of Alzheimer's disease with rare coding variants in <i>ABCA7</i>, <i>PSEN1</i>, <i>SORL1</i> and <i>TREM2</i>.","authors":"David Curtis, Shujaani Joseph","doi":"10.1080/01677063.2025.2561589","DOIUrl":"10.1080/01677063.2025.2561589","url":null,"abstract":"<p><p>Previous studies have reported associations between risk of Alzheimer's disease (AD) or dementia and rare coding variants in a number of genes. A two-stage strategy was used in which a previously released whole exome sequenced sample was used to prioritise 100 genes showing the strongest evidence for association with AD. These genes were then analysed in a newly released whole genome sequenced sample to identify those which showed statistically significant evidence for rare coding variant association. Association analysis of loss of function (LOF) and nonsynonymous variants was carried out in 18,998 protein-coding genes using 11,188 controls and 5,808 cases, with nonsynonymous variants being annotated using 45 different pathogenicity predictors. The 100 genes showing strongest evidence for association were then analysed in a new sample of 27,749 controls and 13,234 cases using only the pathogenicity predictor which had performed best in the first sample. Four genes were statistically significant after correction for multiple testing: <i>ABCA7</i>, <i>PSEN1</i>, <i>SORL1</i> and <i>TREM2</i>. The association of different categories of variant with AD was characterised and the pattern was seen to vary between genes. This study quantifies the contribution of different types of variant within each gene to AD risk. In general, these variants are probably too rare to be clinically useful for assessing individual risk of AD. Further research into the mechanisms whereby the products of these genes affect AD pathogenesis may aid development of novel therapeutic strategies.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-10"},"PeriodicalIF":2.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gut microbial metabolites link dietary history to appetite regulation.","authors":"Emma C Spillman, Andrew K Shepherd, Meihua C Kuang, In-Hwan Jang, Won-Jae Lee, Jing W Wang","doi":"10.1080/01677063.2025.2548783","DOIUrl":"10.1080/01677063.2025.2548783","url":null,"abstract":"<p><p>All metazoan guts harbor commensal communities, from a dozen bacterial species in <i>Drosophila</i> to hundreds in humans. Here, we condition flies with diets containing varying levels of protein and sugar to investigate the impact of dietary history on the interaction between commensal gut bacteria and feeding adaptation in <i>Drosophila</i>. We find that appetite increases with dietary protein, dependent on total gut bacteria content, and enhanced by a drug that promotes the growth of short-chain fatty acid (SCFA)-producing gut bacteria. <i>Lactiplantibacillus</i> is a potential source of butyrate, while <i>Acetobacter</i> produces acetate. Mono-association with <i>Acetobacter</i> or <i>Lactiplantibacillus</i> increases food intake. Mutant strains unable to produce acetate or butyrate have lesser effects. Finally, adding acetate or butyrate to conditioning diets recapitulates the appetitive effect of <i>Acetobacter</i> and <i>Lactiplantibacillus</i>, respectively. Our findings suggest that protein-enriched diets enhance appetite by promoting the interaction between commensal bacteria and the host, with bacterial SCFAs as a conduit.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-10"},"PeriodicalIF":2.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145015677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of 470,000 exome-sequenced UK biobank participants identifies genes containing rare variants which confer dementia risk.","authors":"Lily Gibbons, David Curtis","doi":"10.1080/01677063.2025.2522643","DOIUrl":"10.1080/01677063.2025.2522643","url":null,"abstract":"<p><p>Previous studies have reported that rare coding variants in a handful of genes have major effects on risk of Alzheimer's disease (AD). A recent exome wide association study (ExWAS) of dementia in a subset of the UK Biobank cohort implicated a number of genes, including five which were novel. Here we report a similar analysis, carried out on the full cohort of 470,000 exome-sequenced participants. A score was assigned to each participant depending on individual and/or parental diagnosis of dementia. Regression analysis including <i>APOE</i> ε3 and ε4 doses as covariates was applied to gene-wise tests for association with loss of function (LOF) and nonsynonymous variants. 45 tests using different pathogenicity predictors were applied to the first cohort of 200,000 participants. Subsequently the 100 genes showing strongest evidence for association were analysed in the second cohort of 270,000 participants, using only the best-performing predictor for each gene. Three genes achieved statistical significance, <i>TREM2</i>, <i>SORL1</i> and <i>ABCA7</i>. The five genes reported as novel in the ExWAS did not produce any appreciable evidence for association in this study. The effects and frequencies of variants in different functional categories were characterised for these genes. Rare coding variants in a small number of genes have important effects on dementia risk. Further study of individual variant effects might elucidate mechanisms of pathogenesis. Incorporating rare variant effects for individual risk assessment might become important if preventative treatments for dementia become available. This research has been conducted using the UK Biobank Resource.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"77-84"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144506002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital mirror movements in a family: Outcomes associated with DCC mutations.","authors":"Arife Derda Yücel Şen, Kursat Bora Carman, Çağrı Doğan, Mustafa Şen, Coşkun Yarar","doi":"10.1080/01677063.2025.2525868","DOIUrl":"10.1080/01677063.2025.2525868","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital mirror movement disorder refers to involuntary movements on one side of the body that mimic the deliberate movements on the opposite side. Congenital mirror movement is primarily associated with mutations in the DCC netrin-1 receptor (DCC) gene.</p><p><strong>Case presentation: </strong>A 3-year-old child had been involuntarily grasping with one hand and then the other from infancy. His neuromotor development corresponded with that of his contemporaries. Identical unusual movements were also observed in his father, uncle, and grandmother within his family heritage. In the family where identical observations were noted throughout three generations, the mildest manifestations were reported in the grandmother, but our patient, the index case, had more significant symptoms. The quadruple WES study of the family indicated that all clinically symptomatic individuals harbored a nonsense mutation in the DCC gene.</p><p><strong>Conclusions: </strong>Mirror movements, typically identified in childhood, may result from genetic or neurological disorders. This study presents four individuals from the same family diagnosed with congenital mirror movement disorder.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"65-69"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of gene-gene interactions in Progressive Supranuclear Palsy: new genetic perspectives in the Asian-Indian population.","authors":"Saikat Dey, Monojit Debnath, Ramchandra Yelamanchi, Nitish Kamble, Vikram V Holla, Rohan R Mahale, Pramod Kumar Pal, Ravi Yadav","doi":"10.1080/01677063.2025.2500953","DOIUrl":"10.1080/01677063.2025.2500953","url":null,"abstract":"<p><p>Genes play an important role in the risk of Progressive Supranuclear Palsy (PSP). Some of the major risk genes identified for PSP include <i>MAPT</i>, <i>STX6</i>, <i>MOBP</i>, and <i>EIF2AK3</i> in several ethnic groups. However, the interactions among these genes have not been explored in PSP. Therefore, this prospective case-control study aimed to explore the impact of gene-gene interactions in patients with PSP (n = 106) and healthy subjects (n = 109) of Indian ethnicity. Eight single nucleotide polymorphisms (SNPs) of <i>MAPT</i> gene (rs1467967, rs242557, rs3785883, rs2471738, rs8070723, rs7521, rs12185268, and rs62063857, and two SNPs of <i>STX6</i> gene (rs3747957 and rs1411478), one SNP each from <i>MOBP</i> (rs1768208) and <i>EIF2AK3</i> (rs7571971) genes were genotyped by TaqMan Alleleic Discrimination Assay in all the study participants. Gene-gene interactions among these 12 SNPs were performed using the multi-dimensionality reduction (MDR) test. The combination of SNPs from the <i>MAPT</i> gene (rs1467967, rs242557, rs3785883), along with <i>STX6</i> (rs1411478) and <i>MOBP</i> (rs1768208), appeared to be the best five-locus model (<i>p</i> < 0.001), suggesting strong interactions among <i>MAPT</i>, <i>STX6</i> and <i>MOBP</i> genes in modulating the risk of PSP. Strong synergistic interactions were observed within <i>MAPT</i> gene (rs1467967, rs244557, rs3785883, rs7521, and rs2471738), and between <i>MAPT</i> (rs7521) and <i>MOBP</i> (rs1768208). Additionally, moderately strong synergistic interactions were found between (i) <i>MOBP</i> (rs1768208) and <i>STX6</i> (rs1411478), and (ii) <i>MOBP</i> (rs1768208) and <i>MAPT</i> (rs3785883) genes. The findings of this study suggest significant impact of gene-gene interactions amongst <i>MAPT</i>, <i>STX6</i>, and <i>MOBP</i> genes in modulating the risk of PSP. This implies that epistatic interactions might constitute an important mechanism in delineating the genetic basis of PSP.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"70-76"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The ataxin-2 protein is required in kenyon cells for RNP-granule assembly and appetitive long-term memory formation.","authors":"Camilla Roselli, Jens Hillebrand, Jenifer Kaldun, Vernon Leander Monteiro, Thomas Hurd, Simon G Sprecher, Tamara Boto, Mani Ramaswami","doi":"10.1080/01677063.2025.2537054","DOIUrl":"10.1080/01677063.2025.2537054","url":null,"abstract":"<p><p>Ribonucleoprotein granules (mRNP granules) are thought to contribute to the control of neuronal mRNA translation required for consolidation of long-term memories. Consistent with this, the function of Ataxin-2 in mRNA granule assembly has been shown to be required for long-term olfactory habituation (LTH) in <i>Drosophila</i>, a form of non-associative memory. Knockdown of Ataxin-2 in either local interneurons (LNs) or projection neurons (PNs) of the insect antennal lobe disrupts LTH while leaving short-term habituation intact, leading to a model in which Ataxin-dependent translational control is required in both presynaptic and postsynaptic elements of the LN-PN synapse, whose potentiation has been causally linked to LTH. Here we use novel and established methods for cell-type specific perturbation to ask: (a) whether Ataxin-2 controls mRNA granule assembly in cell types beyond the few that have been examined; and (b) whether it functions not only in LTH, but also for long-term olfactory associative memory (LTM). We show that Ataxin-2 controls mRNP granule assembly in additional neuronal types, namely Kenyon Cells (KCs) that encode associative memory, as well as more broadly in non-neuronal cells, e.g. in nurse cells in the egg chamber. Furthermore, selective knockdown of Atx2 in α/β and α'/β' KCs blocks appetitive long-term but not short-term associative memories. Taken together these observations support a hypothesis that Ataxin-2 dependent translational control is widely required across different mnemonic circuits for consolidation of respective forms of long-term memories.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"54-64"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel role of Arp2/3 complex in the forgetting behavior of <i>Caenorhabditis elegans</i> to <i>Pseudomonas aeruginosa</i> PA14.","authors":"Xin Zhao, Xinyu Li, Hua Bai, Xiaoying Liu, Yaqi Deng, Yu Duan, Qi Wang, Wei Zou","doi":"10.1080/01677063.2025.2494523","DOIUrl":"10.1080/01677063.2025.2494523","url":null,"abstract":"<p><p>Forgetting behavior is a common phenomenon that has been widely studied in various model organisms, including <i>Caenorhabditis elegans</i> (<i>C. elegans</i>), Drosophila, and mammals such as mice and humans. Understanding the mechanisms underlying forgetting can provide valuable insights into potential treatments for memory-related disorders. In this study, <i>C. elegans</i> was used as a model organism to establish a forgetting model based on the PA14 pathogen. A proteomic analysis of signaling pathways involved in forgetting revealed the role of the Arp2/3 complex in regulating pathogen-induced forgetting. Manipulation of genes encoding the components of the Arp2/3 complex (<i>arx-1</i>, <i>arx-2</i>, <i>arx-3</i>, <i>arx-5</i>, and <i>arx-7</i>) led to a reduction in the duration of pathogen-induced forgetting. Additionally, one hour after pathogen removal, a significant decrease in the mRNA levels of <i>arx-5</i> and <i>arx-7</i> was observed, along with a reduction in <i>arx-2::mCherry</i> fluorescence in specific tissues of <i>C. elegans</i>. This study demonstrates that <i>C. elegans</i> exhibits forgetting behavior towards PA14, with a forgetting duration of approximately 2 hours. Pathogen-induced forgetting is associated with an increase in heterogeneous proteins localized to the cytoskeleton. Moreover, the expression levels of genes related to the Arp2/3 complex (<i>arx-1</i>, <i>arx-2</i>, <i>arx-3</i>, <i>arx-5</i>, and <i>arx-7</i>) are reduced, inhibiting cytoskeleton nucleation in cells. This inhibition may contribute to the observed pathogen-induced forgetting in <i>C. elegans</i> in response to PA14.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"39-53"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Venerose: a nuptial gift with implications.","authors":"Deepanshu N D Singh, Matthias Soller","doi":"10.1080/01677063.2025.2473095","DOIUrl":"10.1080/01677063.2025.2473095","url":null,"abstract":"<p><p>Males transfer many components in seminal fluid along with sperm during mating. While sex peptide is well established as a key regulator of female reproductive behaviour and success, the roles of other seminal fluid components remain less understood. A new <i>Drosophila</i> study now reveals functions for a sexually transmitted sugar in providing nutritional value and acting on nutrient-sensing neurons in the brain to maximize reproductive success. Here, we highlight the key findings of this study and explore the potential role of this sugar in male quality assessment by females and in modulation of cryptic female choice.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease.","authors":"Leah Holm-Mercer, Thomas Coysh, Tze How Mok, Peter Rudge, Zita Reisz, Claire Troakes, Safa Al-Sarraj, Tracy Campbell, Laszlo L P Hosszu, Jan Bieschke, Fuquan Zhang, Jonathan D F Wadsworth, Colin Smith, Jenna Jenkinson, Timothy Rittman, Sebastian Brandner, Zane Jaunmuktane, John Collinge, Simon Mead","doi":"10.1080/01677063.2024.2440395","DOIUrl":"10.1080/01677063.2024.2440395","url":null,"abstract":"<p><p>Inherited prion diseases (IPD) secondary to mutations of the prion protein gene, <i>PRNP,</i> exhibit diverse clinical phenotypes, capable of mimicking numerous primary neurodegenerative conditions. We describe the clinical phenotype and neuropathological findings in a family from County Limerick in Ireland presenting with Alzheimer's disease-like cognitive decline and motor symptoms caused by a novel missense mutation of <i>PRNP.</i> This mutation occurs in the <i>PRNP</i> central lysine cluster (CLC; codon 101-110), resulting in substitution of threonine with isoleucine at codon 107 (T107I). This case series highlights that IPD can be hard to distinguish from overlapping clinical syndromes seen in other neurodegenerative diseases. We also discuss similarities and differences of the novel mutation T107I to other pathogenic mutations of the CLC of <i>PRNP</i>.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"16-22"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}