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Keywords = complex gill disease

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20 pages, 6611 KiB  
Article
Transcriptomic Insights into Dual Temperature–Salinity Stress Response in “Shuike No. 1”, a Pioneering Rainbow Trout Strain Bred in China
by Xiaojun Liu, Gaochao Wang, Tianqing Huang, Enhui Liu, Wei Gu, Peng Fan, Kaibo Ge, Datian Li, Yunchao Sun and Gefeng Xu
Biology 2025, 14(1), 49; https://doi.org/10.3390/biology14010049 - 10 Jan 2025
Viewed by 1087
Abstract
Global warming poses a significant threat to aquaculture, particularly for cold-water species like rainbow trout (Oncorhynchus mykiss). Understanding the molecular mechanisms underlying stress responses is crucial for developing resilient strains. This study investigates the dual stress of salinity and temperature response [...] Read more.
Global warming poses a significant threat to aquaculture, particularly for cold-water species like rainbow trout (Oncorhynchus mykiss). Understanding the molecular mechanisms underlying stress responses is crucial for developing resilient strains. This study investigates the dual stress of salinity and temperature response of “Shuike No. 1” (SK), a pioneering commercially bred rainbow trout strain in China, using RNA-sequencing of gill, intestine, and liver tissues from fish exposed to four treatment combinations: freshwater at 16 °C, freshwater at 25 °C, saltwater (30‰) at 16 °C, and saltwater at 25 °C. Differential gene expression analysis identified a substantial number of DEGs, with the liver showing the most pronounced response and a clear synergistic effect observed under combined high-temperature and salinity stress. Weighted gene co-expression network analysis (WGCNA) revealed stress-responsive gene modules and identified hub genes, primarily associated with gene expression, endoplasmic reticulum (ER) function, disease immunity, energy metabolism, and substance transport. Key hub genes included klf9, fkbp5a, fkbp5b, ef2, cirbp, atp1b1, atp1b2, foxi3b, smoc1, and arf1. Functional enrichment analysis confirmed the prominent role of ER stress, particularly the pathway “protein processing in the endoplasmic reticulum.” Our results reveal complex, tissue-specific responses to dual stress, with high temperature exerting a stronger influence than salinity. These findings provide valuable insights into the molecular mechanisms underpinning dual stress responses in SK, informing future breeding programs for enhanced resilience in the face of climate change. Full article
(This article belongs to the Special Issue Metabolic and Stress Responses in Aquatic Animals)
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14 pages, 2862 KiB  
Article
Immune Suppression and Rapid Invasion of Nile Tilapia Gills Following an Acute Challenge by Flavobacterium davisii
by Yingxuan Xu, Shifeng Wang, Yongcan Zhou, Zhenyu Xie, Bei Wang, Zhangding Zhao, Wenlong Cai, Peibo Wang, Weiliang Guo, Dongdong Zhang and Zhi Ye
Biology 2024, 13(11), 894; https://doi.org/10.3390/biology13110894 - 2 Nov 2024
Cited by 1 | Viewed by 1953
Abstract
Flavobacterium davisii is one of the causative agents of columnaris disease, significantly impacting Nile tilapia aquaculture. This study examines the invasion and immune evasion mechanisms of a highly virulent F. davisii strain through transcriptomic profiling of tilapia gills following acute immersion. We identified [...] Read more.
Flavobacterium davisii is one of the causative agents of columnaris disease, significantly impacting Nile tilapia aquaculture. This study examines the invasion and immune evasion mechanisms of a highly virulent F. davisii strain through transcriptomic profiling of tilapia gills following acute immersion. We identified 8192 differentially expressed genes (DEGs) at 2 h, 6 h, and 12 h post-infection. They are enriched in pathways related to oxidative stress, immune suppression, tissue necrosis, and bacterial infection. Notably, early overexpression of rhamnose-binding lectin and mucin genes facilitated bacterial adhesion. Key immune genes, including those encoding major histocompatibility complex (MHC), immunoglobulins (Ig), Toll-like receptors (TLRs), and chemokines, were downregulated, indicating immune suppression. Conversely, immune evasion genes such as Fc receptor-like (FcRL) and programmed death-ligand 1 (PDL1) were upregulated, along with genes associated with reactive oxygen species (ROS) production, leading to increased tissue damage. Additionally, the upregulation of fibroblast growth factor and collagen genes suggested active tissue repair. In conclusion, F. davisii rapidly invades its host by enhancing adhesion to gill tissues, suppressing immune function, and inducing tissue damage. These findings enhance our understanding of F. davisii infection mechanisms and support the future breeding of disease-resistant tilapia and the development of sustainable control strategies. Full article
(This article belongs to the Special Issue Mechanisms of Immunity and Disease Resistance in Aquatic Animals)
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16 pages, 1368 KiB  
Article
Dynamics of Gill Responses to a Natural Infection with Neoparamoeba perurans in Farmed Tasmanian Atlantic Salmon
by Max Charles Vallarino, Sarah L. Dagen, Eoin Costelloe, Shalom Inioluwa Oyenekan, John Tinsley, Victoria Valdenegro, Elżbieta Król, Patricia Noguera and Samuel A. M. Martin
Animals 2024, 14(16), 2356; https://doi.org/10.3390/ani14162356 - 15 Aug 2024
Viewed by 1819
Abstract
Gill health has become a significant global challenge for Atlantic salmon (Salmo salar) aquaculture, particularly during the marine phase of farming. The increasing prevalence of gill pathologies has been linked to rising seawater temperatures, underscoring the need to evaluate existing tools [...] Read more.
Gill health has become a significant global challenge for Atlantic salmon (Salmo salar) aquaculture, particularly during the marine phase of farming. The increasing prevalence of gill pathologies has been linked to rising seawater temperatures, underscoring the need to evaluate existing tools for monitoring gill health and to develop novel approaches for early detection. In this study, we investigated the gill responses of commercially farmed Atlantic salmon to natural infection with Neoparamoeba perurans during an outbreak of amoebic gill disease (AGD) in Tasmania. Our focus spanned the low AGD prevalence, high AGD prevalence, and post-freshwater treatment stages of the outbreak. Evaluations of gill tissue included assessments of the gross AGD score, histopathological score, abundance of N. perurans (measured by 18S rRNA gene expression), and expression levels of inflammation-related transcripts. We demonstrated a strong correlation between different measures of AGD-related gill pathology and significant differences between distinct stages of the N. perurans outbreak. Post-treatment, fish exhibited considerable variability in their responses to the freshwater bath, highlighting the necessity for personalized management strategies that consider genetic, environmental, and health status factors. The expression patterns of angiogenin-1 (ANG1) and complement C1q tumour necrosis factor-related protein 3-like (C1QTNF3) emphasize their potential as biomarkers for early detection of gill damage in salmon aquaculture worldwide. Full article
(This article belongs to the Section Aquatic Animals)
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13 pages, 288 KiB  
Article
Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome
by Jakub P. Fichna, Mateusz Chiliński, Anup Kumar Halder, Paweł Cięszczyk, Dariusz Plewczynski, Cezary Żekanowski and Piotr Janik
Int. J. Mol. Sci. 2024, 25(11), 5758; https://doi.org/10.3390/ijms25115758 - 25 May 2024
Cited by 1 | Viewed by 1702
Abstract
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental psychiatric disorder with complex and elusive etiology with a significant role of genetic factors. The aim of this study was to identify structural variants that could be associated with familial GTS. The study group [...] Read more.
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental psychiatric disorder with complex and elusive etiology with a significant role of genetic factors. The aim of this study was to identify structural variants that could be associated with familial GTS. The study group comprised 17 multiplex families with 80 patients. Structural variants were identified from whole-genome sequencing data and followed by co-segregation and bioinformatic analyses. The localization of these variants was used to select candidate genes and create gene sets, which were subsequently processed in gene ontology and pathway enrichment analysis. Seventy putative pathogenic variants shared among affected individuals within one family but not present in the control group were identified. Only four private or rare deletions were exonic in LDLRAD4, B2M, USH2A, and ZNF765 genes. Notably, the USH2A gene is involved in cochlear development and sensory perception of sound, a process that was associated previously with familial GTS. In addition, two rare variants and three not present in the control group were co-segregating with the disease in two families, and uncommon insertions in GOLM1 and DISC1 were co-segregating in three families each. Enrichment analysis showed that identified structural variants affected synaptic vesicle endocytosis, cell leading-edge organization, and signaling for neurite outgrowth. The results further support the involvement of the regulation of neurotransmission, neuronal migration, and sound-sensing in GTS. Full article
8 pages, 1172 KiB  
Communication
Outbreak of Parasitic Dinoflagellate Piscinoodinium sp. Infection in an Endangered Fish from India: Arulius Barb (Dawkinsia arulius)
by Arun Sudhagar, Nithianantham Sundar Raj, Sowmya Pazhur Mohandas, Shaji Serin, Konnoth Kuttappan Sibi, Nandiath Karayi Sanil and Thangaraj Raja Swaminathan
Pathogens 2022, 11(11), 1350; https://doi.org/10.3390/pathogens11111350 - 14 Nov 2022
Cited by 3 | Viewed by 2842
Abstract
Freshwater velvet disease is caused by the dinoflagellate parasite, Piscinoodinium sp. This parasite has been reported in tropical and subtropical fishes, and it can cause devastating losses. Moreover, Piscinoodinium sp. is identified as one of the least studied finfish parasites, and the available [...] Read more.
Freshwater velvet disease is caused by the dinoflagellate parasite, Piscinoodinium sp. This parasite has been reported in tropical and subtropical fishes, and it can cause devastating losses. Moreover, Piscinoodinium sp. is identified as one of the least studied finfish parasites, and the available molecular information about this parasite is meager. Recently, Piscinoodinium sp. was responsible for the 100% cumulative mortality of the captive-bred F1 generation of Arulius barb (Dawkinsia arulius), an endangered freshwater fish native to India. The trophont stages of the parasite were observed in the skin and gills of the affected fish. The total DNA was extracted from the trophonts collected from the affected Arulius barb and the partial nucleotide sequence of the rDNA complex region (2334 bp) was amplified using PCR. The amplified PCR product exhibited a high sequence identity (97.61%) with Piscinoodinium sp. In the phylogenetic analysis of the SSU rDNA, Piscinoodinium sp. emerged as a separate clade from other dinoflagellate species. This is the first report of the infection of Piscinoodinium sp. in Arulius barb and the molecular information generated from this study can serve as a baseline to study the diversity of the parasite in India. Furthermore, the impact of this parasite among wild fish stock is not known, and this parasite needs further research focus to generate more molecular information and to understand the host–pathogen interaction. Full article
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26 pages, 429 KiB  
Review
Microbial Interactions That Contribute to Gill Disease in Aquaculture
by Emma O’Halloran, Ronnie Mooney, Kiri Rodgers and Fiona L. Henriquez
Parasitologia 2022, 2(4), 266-291; https://doi.org/10.3390/parasitologia2040023 - 21 Oct 2022
Cited by 4 | Viewed by 4797
Abstract
The rapid growth in the human population has led to an increased requirement for readily available food sources. The aquaculture industry is a fundamental source for maintaining food supplies; however, it is subjected to mounting pressures to meet supply demands. Thus, limiting factors [...] Read more.
The rapid growth in the human population has led to an increased requirement for readily available food sources. The aquaculture industry is a fundamental source for maintaining food supplies; however, it is subjected to mounting pressures to meet supply demands. Thus, limiting factors that negatively impact the cultivation of farmed aquatic organisms is essential. Gill disease is an increasing area of concern, resulting in substantial losses in farmed fish. Several microbial pathogens are known to cause gill disease and, in many instances, multiple pathogens or factors can be involved in the disease, resulting in complex gill disease (CGD). The role of mixed infections in gill disease is largely unknown, as such this review aims to examine data on previous infections and highlight the variety of microbes that might be involved in gill disease. The influence of climate change in the context of CGD is also discussed given the strong links between physicochemical extremes and numerous microbial gill pathogens. Understanding these factors will allow for improved diagnostic and therapeutic strategies to be implemented. Full article
22 pages, 7132 KiB  
Article
Prospective Longitudinal Study of Putative Agents Involved in Complex Gill Disorder in Atlantic salmon (Salmo salar)
by Ana Herrero, Hamish Rodger, Adam D. Hayward, Chris Cousens, James E. Bron, Mark P. Dagleish and Kim D. Thompson
Pathogens 2022, 11(8), 878; https://doi.org/10.3390/pathogens11080878 - 3 Aug 2022
Cited by 7 | Viewed by 3044
Abstract
Complex gill disorder (CGD) is an important condition in Atlantic salmon aquaculture, but the roles of the putative aetiological agents in the pathogenesis are uncertain. A longitudinal study was undertaken on two salmon farms in Scotland to determine the variations in loads of [...] Read more.
Complex gill disorder (CGD) is an important condition in Atlantic salmon aquaculture, but the roles of the putative aetiological agents in the pathogenesis are uncertain. A longitudinal study was undertaken on two salmon farms in Scotland to determine the variations in loads of CGD-associated pathogens (Desmozoon lepeophtherii, Candidatus Branchiomonas cysticola, salmon gill pox virus (SGPV) and Neoparamoeba perurans) estimated by quantitative PCR. In freshwater, Ca. B. cysticola and SGPV were detected in both populations, but all four pathogens were detected on both farms during the marine stage. Candidatus B. cysticola and D. lepeophtherii were detected frequently, with SGPV detected sporadically. In the marine phase, increased N. perurans loads associated significantly (p < 0.05) with increases in semi-quantitative histological gill-score (HGS). Increased Ca. B. cysticola load associated significantly (p < 0.05) with increased HGS when only Farm B was analysed. Higher loads of D. lepeophtherii were associated significantly (p < 0.05) with increased HGS on Farm B despite the absence of D. lepeophtherii-type microvesicles. Variations in SGPV were not associated significantly (p > 0.05) with changes in HSG. This study also showed that water temperature (season) and certain management factors were associated with higher HGS. This increase in histological gill lesions will have a deleterious impact on fish health and welfare, and production performance. Full article
(This article belongs to the Special Issue Emerging Infections in Aquatic Animals)
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11 pages, 1504 KiB  
Article
Elevated Seawater Temperature and Infection with Neoparamoeba perurans Exacerbate Complex Gill Disease in Farmed Atlantic Salmon (Salmo salar) in British Columbia, Canada
by Simon R. M. Jones and Derek Price
Microorganisms 2022, 10(5), 1039; https://doi.org/10.3390/microorganisms10051039 - 17 May 2022
Cited by 6 | Viewed by 2429
Abstract
Gill disorders and diseases are emergent health concerns affecting marine-farmed salmon, for which the causal factors are poorly understood in British Columbia (BC), Canada. This study sought to describe and compare spatial and temporal patterns of infection with Neoparamoeba perurans, the causal [...] Read more.
Gill disorders and diseases are emergent health concerns affecting marine-farmed salmon, for which the causal factors are poorly understood in British Columbia (BC), Canada. This study sought to describe and compare spatial and temporal patterns of infection with Neoparamoeba perurans, the causal agent of amoebic gill disease, and visually assessed gill health scores in farmed Atlantic salmon. Gill tissue obtained during the Fisheries and Oceans Canada’s Fish Health Audit and Intelligence Program (DFO-FHAIP) between 2016 and 2020 were screened for N. perurans by qPCR. Semi-quantitative visual gill health assessments were conducted during the audits, and farms were assigned clinical AGD status based on microscopic visualization of N. perurans together with histopathological lesions. Seawater temperature and salinity data were collected from all active farms in the region during the study period. Trends in gill scores and associations with N. perurans infections were described and tested using an ordinal logistic mixed model. The amoeba was detected in 21% of 345 audited farms and in 12% of 1925 fish samples. Most (56%, n = 1898) samples had no visible gill damage (score = 0), and 23% had scores ≥ 2 (high). Distinct patterns of spatial and temporal variability in the rates of high gill scores and N. perurans infections are demonstrated. The model supported the statistically significant relationship observed between seawater temperature and the proportion of samples with elevated gill scores. The model also revealed a direct relationship between salinity and gill score but only in the presence of N. perurans. While the data suggest that histopathological lesions contributed to the gill scores, temperature and, to a lesser extent, salinity were significant risk factors of increased gill score. The results are discussed in the context of recently frequent thermal anomalies in the northeastern Pacific Ocean. Full article
(This article belongs to the Section Environmental Microbiology)
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14 pages, 670 KiB  
Article
Effects of Complex Rehabilitation Program on Reducing Pain and Disability in Patients with Lumbar Disc Protrusion—Is Early Intervention the Best Recommendation?
by Emilian Tarcău, Dorina Ianc, Elena Sirbu, Doriana Ciobanu, Ioan Cosmin Boca and Florin Marcu
J. Pers. Med. 2022, 12(5), 741; https://doi.org/10.3390/jpm12050741 - 2 May 2022
Cited by 2 | Viewed by 4151
Abstract
(1) Background: Due to its frequency and possible complications, low back pain (LBP) has a high social impact, it is a common problem of the active population and the second reason for visiting a physician. In patients with lumbar disc protrusion (LDP), one [...] Read more.
(1) Background: Due to its frequency and possible complications, low back pain (LBP) has a high social impact, it is a common problem of the active population and the second reason for visiting a physician. In patients with lumbar disc protrusion (LDP), one of the most common causes of LBP, the nucleus pulposus bulges against the disc and then protrudes into the spinal cord, but the annulus fibrosus remains intact; (2) Objectives: The primary objective of this study was to determine the efficacy of a rehabilitation treatment (RT) comprising electrotherapy (ET), hydrotherapy (HT) and individualized physical therapy (PT) versus ET alone in patients with LDP. The second objective was to investigate whether there is a correlation between early RT and the symptomatology of patients with LDP; (3) Methods: The research was conducted between July 2021 and January 2022 at the Ceres Hotel Treatment Centre from Baile 1 Mai, Romania, and all the study subjects signed an informed consent form. For this study, the block randomization method was used to randomize subjects into groups that resulted in equal sample size, in order to maintain a reasonably good balance among groups. Therefore, the two groups had the same number of subjects (30 subjects) and the randomization was made taking into account the patient’s motivation or the subject’s willingness to receive not only electrotherapy treatment, but also the physical exercises and hydrotherapy. The eligibility criteria were: low back pain for more than three months, an MRI confirmed diagnosis of LDP (without dural compression), and ability to perform a PT program. The control group received only a classical ET program. In addition, the patients in the experimental group received a complex individualized PT program associated with HT and ET. To achieve these objectives, the study subjects were monitored for spinal mobility (lateral lumbar flexion—LLF, index fingers-ground—IFG, lumbar Schober tests for flexion—LS, Inverted Schober test for extension—ILS), trunk flexor and extensor muscle strength (LF strength, LE strength), level of pain (Short Form McGill Pain Questionnaire—SF-MPQ, Visual Analogue Scale—VAS), and the degree of limitation in activities of daily living (Oswestry Disability Index—ODI); (4) Results: Comparing the evolution of the subjects, using the One-Way ANOVA between groups, we observed a significant improvement in all variables [SF-MPQ (95% CI, 7.996/11.671), VAS (95% CI, 1.965/3.169), mobility FTF (95% CI, −7.687/−3.940), LS (95% CI, 2.272/2.963), LE strength (95% CI, −5.676/−3.324), LF strength (95% CI, −5.970/−3.630), disability (95% CI, 8.026/10.441) after six months of treatment for the experimental group subjects. A clear correlation was found, using the Bravis–Pearson test, between the earliest possible initiation of RT and improvement of patients’ symptoms; (5) Conclusion: The current study proves the importance of combining ET with HT and PT. The earlier the RT is implemented, the lower the pain perception and level of disability associated with the lumbar disease. Full article
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9 pages, 4013 KiB  
Case Report
Assessment of Marine Gill Disease in Farmed Atlantic Salmon (Salmo salar) in Chile Using a Novel Total Gross Gill Scoring System: A Case Study
by Sophie Fridman, Smaragda Tsairidou, Nilantha Jayasuriya, Halina Sobolewska, Alastair Hamilton, Carlos Lobos, Ross D. Houston, Hamish Rodger, James Bron and Tharangani Herath
Microorganisms 2021, 9(12), 2605; https://doi.org/10.3390/microorganisms9122605 - 16 Dec 2021
Cited by 5 | Viewed by 5533
Abstract
Gill disorders have become more prevalent and widespread in finfish aquaculture in recent years. Their aetiology is often considered to be multifactorial. Effective diagnosis, control and prevention are hindered by the lack of standardised methodologies to characterise the aetiological agents, which produce an [...] Read more.
Gill disorders have become more prevalent and widespread in finfish aquaculture in recent years. Their aetiology is often considered to be multifactorial. Effective diagnosis, control and prevention are hindered by the lack of standardised methodologies to characterise the aetiological agents, which produce an array of clinical and pathological presentations. The aim of this study was to define a novel gross pathological scoring system suitable for field-based macroscopic assessment of complex or multifactorial gill disease in farmed Atlantic salmon, using samples derived from a gill disease outbreak in Chile. Clinical assessment of gross gill morphology was performed, and gill samples were collected for qPCR and histology. A novel total gill scoring system was developed, which assesses gross pathological changes combining both the presumptive or healed amoebic gill disease (AGD) and the presence of other types of gill lesions. This scoring system offers a standardised approach to characterise the severe proliferative pathologies in affected gills. This total gill scoring system can substantially contribute to the development of robust mitigation strategies and could be used as an indicator trait for incorporating resistance to multifactorial gill disease into breeding goals. Full article
(This article belongs to the Special Issue Amoebic Gill Disease)
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10 pages, 762 KiB  
Article
EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder
by Mathis Hildonen, Amanda M. Levy, Christine Søholm Hansen, Jonas Bybjerg-Grauholm, Axel Skytthe, Nanette M. Debes, Qihua Tan and Zeynep Tümer
Genes 2021, 12(10), 1510; https://doi.org/10.3390/genes12101510 - 26 Sep 2021
Cited by 8 | Viewed by 2956
Abstract
Tic spectrum disorder (TSD) is an umbrella term which includes Gilles de la Tourette syndrome (GTS) and chronic tic disorder (CTD). They are considered highly heritable, yet the genetic components remain largely unknown. In this study we aimed to investigate disease-associated DNA methylation [...] Read more.
Tic spectrum disorder (TSD) is an umbrella term which includes Gilles de la Tourette syndrome (GTS) and chronic tic disorder (CTD). They are considered highly heritable, yet the genetic components remain largely unknown. In this study we aimed to investigate disease-associated DNA methylation differences to identify genes and pathways which may be implicated in TSD aetiology. For this purpose, we performed an exploratory analysis of the genome-wide DNA methylation patterns in whole blood samples of 16 monozygotic twin pairs, of which eight were discordant and six concordant for TSD, while two pairs were asymptomatic. Although no sites reached genome-wide significance, we identified several sites and regions with a suggestive significance, which were located within or in the vicinity of genes with biological functions associated with neuropsychiatric disorders. The two top genes identified (TSC1 and CRYZ/TYW3) and the enriched pathways and components (phosphoinosides and PTEN pathways, and insulin receptor substrate binding) are related to, or have been associated with, the PI3K/AKT/mTOR pathway. Genes in this pathway have previously been associated with GTS, and mTOR signalling has been implicated in a range of neuropsychiatric disorders. It is thus possible that altered mTOR signalling plays a role in the complex pathogenesis of TSD. Full article
(This article belongs to the Special Issue Genetics of Neurodevelopmental Disorders)
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15 pages, 864 KiB  
Review
Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome—Where Are We?
by Amanda M. Levy, Peristera Paschou and Zeynep Tümer
Genes 2021, 12(9), 1321; https://doi.org/10.3390/genes12091321 - 26 Aug 2021
Cited by 16 | Viewed by 5281
Abstract
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental and -psychiatric tic-disorder of complex etiology which is often comorbid with obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD). Twin and family studies of GTS individuals have shown a high level of [...] Read more.
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental and -psychiatric tic-disorder of complex etiology which is often comorbid with obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD). Twin and family studies of GTS individuals have shown a high level of heritability suggesting, that genetic risk factors play an important role in disease etiology. However, the identification of major GTS susceptibility genes has been challenging, presumably due to the complex interplay between several genetic factors and environmental influences, low penetrance of each individual factor, genetic diversity in populations, and the presence of comorbid disorders. To understand the genetic components of GTS etiopathology, we conducted an extensive review of the literature, compiling the candidate susceptibility genes identified through various genetic approaches. Even though several strong candidate genes have hitherto been identified, none of these have turned out to be major susceptibility genes yet. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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10 pages, 552 KiB  
Article
Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome
by Mathis Hildonen, Amanda M. Levy, Christina Dahl, Victoria A. Bjerregaard, Lisbeth Birk Møller, Per Guldberg, Nanette M. Debes and Zeynep Tümer
Genes 2021, 12(1), 86; https://doi.org/10.3390/genes12010086 - 12 Jan 2021
Cited by 14 | Viewed by 4671
Abstract
Gilles de la Tourette syndrome (GTS) is a complex neurodevelopmental disorder characterized by motor and vocal tics. Most of the GTS individuals have comorbid diagnoses, of which obsessive-compulsive disorder (OCD) and attention deficit-hyperactivity disorder (ADHD) are the most common. Several neurotransmitter systems have [...] Read more.
Gilles de la Tourette syndrome (GTS) is a complex neurodevelopmental disorder characterized by motor and vocal tics. Most of the GTS individuals have comorbid diagnoses, of which obsessive-compulsive disorder (OCD) and attention deficit-hyperactivity disorder (ADHD) are the most common. Several neurotransmitter systems have been implicated in disease pathogenesis, and amongst these, the dopaminergic and the serotonergic pathways are the most widely studied. In this study, we aimed to investigate whether the serotonin transporter (SERT) gene (SLC6A4) was differentially expressed among GTS individuals compared to healthy controls, and whether DNA variants (the SERT-linked polymorphic region 5-HTTLPR, together with the associated rs25531 and rs25532 variants, and the rare Ile425Val variant) or promoter methylation of SLC6A4 were associated with gene expression levels or with the presence of OCD as comorbidity. We observed that SLC6A4 expression is upregulated in GTS individuals compared to controls. Although no specific genotype, allele or haplotype was overrepresented in GTS individuals compared to controls, we observed that the LAC/LAC genotype of the 5-HTTLPR/rs25531/rs25532 three-locus haplotype was associated with higher SLC6A4 mRNA expression levels in GTS individuals, but not in the control group. Full article
(This article belongs to the Special Issue Genes at Ten)
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16 pages, 4017 KiB  
Article
Gill Mucus and Gill Mucin O-glycosylation in Healthy and Amebic Gill Disease-Affected Atlantic Salmon
by John Benktander, János T. Padra, Ben Maynard, George Birchenough, Natasha A. Botwright, Russel McCulloch, James W. Wynne, Sinan Sharba, Kristina Sundell, Henrik Sundh and Sara K. Lindén
Microorganisms 2020, 8(12), 1871; https://doi.org/10.3390/microorganisms8121871 - 26 Nov 2020
Cited by 18 | Viewed by 4220
Abstract
Amoebic gill disease (AGD) causes poor performance and death in salmonids. Mucins are mainly comprised by carbohydrates and are main components of the mucus covering the gill. Since glycans regulate pathogen binding and growth, glycosylation changes may affect susceptibility to primary and secondary [...] Read more.
Amoebic gill disease (AGD) causes poor performance and death in salmonids. Mucins are mainly comprised by carbohydrates and are main components of the mucus covering the gill. Since glycans regulate pathogen binding and growth, glycosylation changes may affect susceptibility to primary and secondary infections. We investigated gill mucin O-glycosylation from Atlantic salmon with and without AGD using liquid chromatography–mass spectrometry. Gill mucin glycans were larger and more complex, diverse and fucosylated than skin mucins. Confocal microscopy revealed that fucosylated mucus coated sialylated mucus strands in ex vivo gill mucus. Terminal HexNAcs were more abundant among O-glycans from AGD-affected Atlantic salmon, whereas core 1 structures and structures with acidic moieties such as N-acetylneuraminic acid (NeuAc) and sulfate groups were less abundant compared to non-infected fish. The fucosylated and NeuAc-containing O-glycans were inversely proportional, with infected fish on the lower scale of NeuAc abundance and high on fucosylated structures. The fucosylated epitopes were of three types: Fuc-HexNAc-R, Gal-[Fuc-]HexNAc-R and HexNAc-[Fuc-]HexNAc-R. These blood group-like structures could be an avenue to diversify the glycan repertoire to limit infection in the exposed gills. Furthermore, care must be taken when using skin mucus as proxy for gill mucus, as gill mucins are distinctly different from skin mucins. Full article
(This article belongs to the Special Issue Amoebic Gill Disease)
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17 pages, 5834 KiB  
Article
Bacteriomic Profiling of Branchial Lesions Induced by Neoparamoeba perurans Challenge Reveals Commensal Dysbiosis and an Association with Tenacibaculum dicentrarchi in AGD-Affected Atlantic Salmon (Salmo salar L.)
by Joel Slinger, Mark B. Adams and James W. Wynne
Microorganisms 2020, 8(8), 1189; https://doi.org/10.3390/microorganisms8081189 - 5 Aug 2020
Cited by 30 | Viewed by 5714
Abstract
Amoebic gill disease is a parasitic condition that commonly affects marine farmed Atlantic salmon. The causative agent, Neoparamoeba perurans, induces a marked proliferation of the gill mucosa and focal superficial necrosis upon branchial lesions. The effect that amoebic branchialitis has upon gill [...] Read more.
Amoebic gill disease is a parasitic condition that commonly affects marine farmed Atlantic salmon. The causative agent, Neoparamoeba perurans, induces a marked proliferation of the gill mucosa and focal superficial necrosis upon branchial lesions. The effect that amoebic branchialitis has upon gill associated commensal bacteria is unknown. A 16S rRNA sequencing approach was employed to profile changes in bacterial community composition, within amoebic gill disease (AGD)-affected and non-affected gill tissue. The bacterial diversity of biopsies with and without diseased tissue was significantly lower in the AGD-affected fish compared to uninfected fish. Furthermore, within the AGD-affected tissue, lesions appeared to contain a significantly higher abundance of the Flavobacterium, Tenacibaculum dicentrarchi compared to adjunct unaffected tissues. Quantitative PCR specific to both N. perurans and T. dicentrarchi was used to further examine the co-abundance of these known fish pathogens. A moderate positive correlation between these pathogens was observed. Taken together, the present study sheds new light on the complex interaction between the host, parasite and bacterial communities during AGD progression. The role that T. dicentrarchi may play in this complex relationship requires further investigation. Full article
(This article belongs to the Special Issue Host–Microbe Interactions in Animal/Human Health and Disease)
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