164 research outputs found
Mitochondrial genome variability of 205 Arabian endurance horses
No full textInternational audienceObjectives: The objectives of this study were to propose a new strategy to call genetic variants in mitochondrial genome, and determine whether some variants are associated to endurance performance. Methodology:DNA was isolated from peripheral blood and mtDNA was amplified by 5 overlapping amplicons and then sequenced by Illumina Miseq. We chose a reference genome (GenBank ID : JN398380.1) that we « circularized » to improve terminals' alignments. After quality filtering and alignment, GATK (v3.5) was used to detect SNPs, indels and heteroplasmy. Association between SNPs and performance in endurance was tested using mixed model with fixed SNP Effect and random additive genetic effect with relationship matrix. Results: We got 590 variable positions of which 72% were known through studies of mitochondrial variability in horses [1,2]. 80% of the protein coding variants are silent and the transition/transversion ratio is 22.5. We observed 1.5% of non-haploid genotype. We graphically described the variants and the observed heteroplasmy in terms of localization, diversity, potential effects along the mitochondrial genome. Our preliminary analysis do not allow to associate some of the variants to performance. Conclusions: Despite a very strong conservative selection, 590 variants were identified on mtDNA of endurance horses. References: [1] Achilli et al. Mitochondrial genomes from modern horses reveal the major haplogroups that underwent domestication. PNAS, 2012 [2] Cardinali et al. An Overview of Ten Italian Horse Breeds through Mitochondrial DNA. PLOS one, 2016 Funding: This study was part of the GenEndurance project, which was financially supported by “Fonds Eperon,” the “Institut Français du Cheval et de l’Equitation” (IFCE), “the Association du Cheval Arabe” (ACA), the “Institut Nationalde Recherche Agronomique” (INRA) and the “Ecole Nationale Vétérinaire d’Alfort” (ENVA) Auteurs principaux : Dr. BARREY, Eric (b) ; Mr. HEURTEAU, Alexandre (a,b) ; Mrs. HOEDE,Claire (a) ; Mrs. RICARD, Anne (b,c)Co-auteurs : Mrs. ESQUERRÉ, Diane (d) ; Mrs. MORGENTHALER, Caroline (b) ; Mrs. MACH,Nuria (b) ; Mrs. ROBERT, Céline (b,e)Intervenant : Dr. BARREY, Eric (b
Virtual Congress
No full textInternational audienceIn the last decade, the discovery of non-coding RNAs (ncRNA) in nuclear-mitochondrial crosstalk has become an emerging epigenetic topic. These ncRNAs (miRNA and long ncRNA - lncRNA) found in mitochondria are either encoded by the nuclear genome and imported in mitochondria, or conversely, encoded by the mitochondrial genome and then exported to the cytoplasm and, for some of them, into the nucleus [1, 2, 7]. The role of some of these ncRNA has been studied in cancers, neuromuscular disorders, neurologic or cardiovascular diseases. This symposium will present some interesting examples of ncRNA in nuclear—mitochondrial crosstalk and putative therapeutic applications. As an introduction, we propose a classification with examples of the large diversity of ncRNAs present in the mitochondria in order to clarify their origin and putative roles in the cell: ncRNA encoded by the nuclear genome and imported into mitochondria [1]: •lncRNAs will be also presented in the talks of Nina Entelis [1] and Eleonora Leucci (lncRNA SAMMSON expressed in human melanoma [3]).•microRNAs: Let-7b, miR-302, miR-365, miR-1 will be briefly presented by Eric Barrey [4, 5] and Samarjit Das will present the role of the imported miR-181c in cardiovascular system [6].ncmtRNA encoded by the mitochondrial genome and exported to the cytosol and nucleus [2]:•lncmtRNAs: the role in oncogenesis of the ncRNA family (SncmtRNA, ASncmtRNA) in human and mouse will be presented by Veronica Burzio [7].•mitochondrial microRNAs: some new miRNAs detected in horse will be presented by Eric Barrey [8]; the origin and roles of the miR-4485, miR-1973 in human tumor cells will be presented in the talk of Veronica Burzio [9].Finally, the mutations (homoplasmic or heteroplasmic) of one of the 22 mitochondrial tRNAs, the most known ncRNA encoded by the mitochondrial genome, may have a great health impact as the talk of Ivan Tarassov will present for tRNAPro mutation in a neuromuscular disorder. References: 1-Jeandard D. et al. (2019). Import of Non-Coding RNAs into Human Mitochondria: A Critical Review and Emerging Approaches. Cells, 8(3)(Mars 26), E286. 2-Mercer T. R. et al. (2011). The human mitochondrial transcriptome. Cell, 146(4), 645–58. 3-Leucci E. et al. (2016). Melanoma addiction to the long non-coding RNA SAMMSON. Nature, 531(7595), 518–522. 4-Barrey E. et al. (2011). Pre-microRNA and Mature microRNA in Human Mitochondria. PLoS One, 6(5). e20220. 5-Zhang X. et al. (2014). MicroRNA Directly Enhances Mitochondrial Translation during Muscle Differentiation. Cell, 158(3), 607–619. 6-Das, S. et al. (2012). Nuclear miRNA regulates the mitochondrial genome in the heart. Circ Res 110:1596-1603. 7-Burzio, V. et al. (2009). Expression of a family of noncoding mitochondrial RNAs distinguishes normal from cancer cells. PNAS, 106(23), 9430–4. 8-Mach Núria et al. (2015). Integrated mRNA and miRNA expression profiling in blood reveals candidate 2 biomarkers associated with endurance exercise in the horse. Scientific Reports, 57. 9-Fitzpatrick, C. et al. (2019). Mitochondrial ncRNA targeting induces cell cycle arrest and tumor growth inhibition of MDA-MB-231 breast cancer cells through reduction of key cell cycle progression factors. Cell Death & Disease, 10(6), 423
Microarray analysis after strenuous exercise in peripheral blood mononuclear cells of endurance horses
No full textIt is known that moderate physical activity may have beneficial effects on health, whereas strenuous effort induces a state resembling inflammation. The molecular mechanisms underlying the cellular response to exercise remain unclear, although it is clear that the immune system plays a key role. It has been hypothesized that the physio-pathological condition that develops in athletes subjected to heavy training is caused by derangement of cellular immune regulation. The purpose of the present study was to obtain information on endurance horse gene transcription under strenuous conditions and to identify candidate genes causing immune system derangement. We performed a wide gene expression scan, using microarray technology, on peripheral blood mononuclear cells of ten horses chosen from high-level participants in national and international endurance races. The use of three different timepoints revealed changes in gene expression when post-effort samples (T1, taken immediately after the race; and T2, taken 24 h after the race) were compared with basal sample (T0, at rest). Statistical analysis showed no differences in gene expression between T0 and T2 samples, indicating complete restoration of homeostasis by 24 h after racing, whereas T1 showed strong modulation of expression, affecting 132 genes (97 upregulated, 35 downregulated). Ingenuity pathway analysis revealed that the main mechanisms and biofunctions involved were significantly associated with immunological and inflammatory responses. Real-time PCR was performed on 26 gene products to validate the array data
Reviewe: Genetics and genomics in equine exercise physiology: an overview of the new applications of molecular biology as positive and negative markers of performance and health
No full textEquine breeding selection has been developed by applying quantitative genetic methods for calculating the heritability of the complex traits such as performance in racing or sport competitions. With the great development of biotechnologies, equine molecular genetics has come of age. The recent sequencing of the equine genome by an international consortium was a major advance that will impact equine genomics in the near future. With the rapid progress in equine genetics, new applications in early performance evaluation and the detection of disease markers become available. Many new biomolecular tools will change management of horse selection, disease diagnosis and treatment. The purpose of this review is to present new developments in equine genetics and genomics for performance evaluation and health markers after a short summary of the previous knowledge about the genetic components of the exercise performance traits
Surgical Treatment of Spinal Meningiomas in the Elderly (≥75 Years): Which Factors Affect the Neurological Outcome? An International Multicentric Study of 72 Cases
No full text(1) Background: With the increasing life expectancy in the Western world, an increasing number of old patients presents with spinal meningioma. Considering the benign nature of these tumors, the functional outcome remains of great importance, since more people reach old age in general conditions of well-being and satisfactory autonomy. (2) Methods: We conducted an international multicenter retrospective study to investigate demographic, clinical and radiological data in a population of elderly patients (≥75 years of age) undergoing surgery for SM from January 2000 to December 2020 in four European referral centers. The aim was to identify prognostic and predictive factors for a good postoperative functional outcome. (3) Results: 72 patients were included in the study. Complete tumor resection (Simpson I or II) was achieved in 67 (95.7%) cases. Intraoperative complications were reported in 7 (9.9%) patients while postoperative complications were found in 12 (16.7%). An excellent general postoperative status (McCormick I and II) was achieved in 65.3%. Overall, surgical resection had a good impact on patients’ functional outcome (86.1% either showing an improvement or maintaining a good preoperative status). Uni- and multivariate analyses found that both age and preoperative modified McCormick independently correlated with relative outcome (coeff = −0.058, p = 0.0251; coeff = 0.597, p < 0.0001) and with postoperative status (coeff = 0.058, p = 0.02507; coeff = 0.402, p = 0.00027), respectively. (4) Conclusions: Age and preoperative modified McCormick were found to be independent prognostic factors. Nevertheless, advanced age (≥75), per se, did not seem to contraindicate surgery, even in those with severe preoperative neurological deficits. The functional results sustain the need for surgical resection of SM in the elderly
Investigation of the vertical hoof force distribution in the equine forelimb with an instrumented horseboot
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Candida blankii : um patógeno emergente de difícil diagnóstico e tratamento clínico
No full textO gênero Candida possui várias espécies conhecidas, e que podem tornar-se patogênicas em determinadas situações. Candida blankii é uma espécie emergente que, na última década, foi identificada como um agente de doenças sistêmicas. Ainda não existe um protocolo de tratamento específico, apesar de que nos poucos casos registrados na literatura a terapia adotada foi efetiva. O objetivo deste estudo foi realizar uma revisão bibliográfica para coletar informações relevantes sobre este patógeno como um possível agente etiológico em infecções sistêmicas, bem como sua epidemiologia e os aspectos de sua patogenicidade.The genus Candida has several known species, and may become pathogenic in certain situations. Candida blankii is an emerging species that in the last decade has been identified as an agent of systemic diseases. There is no specific treatment protocol yet, although in the few cases reported in the literature the therapy adopted was effective. The objective of this study was to conduct a literature review to collect relevant information about this pathogen as a possible etiological agent in systemic infections, as well as its epidemiology and aspects of its pathogenicity
Les objectifs et les critères de sélection : Evaluation de l’aptitude sportive chez le cheval : application à la définition de critères précoces de sélection
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