scholarly journals Heritability and Genomic Architecture of Episodic Exercise-Induced Collapse in Border Collies

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1927
Author(s):  
Elaine M Norton ◽  
Katie M Minor ◽  
Susan M Taylor ◽  
Molly E McCue ◽  
James R Mickelson
Keyword(s):  
Major Gene ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Strenuous Exercise ◽  
True Nature ◽  
Variable Effect ◽  
Association Analyses ◽  
Complex Genetic Disorder ◽  
Exercise Induced ◽  
System Disorder

An episodic nervous system disorder triggered by strenuous exercise, termed border collie collapse (BCC), exists in border collies and related breeds. The genetic basis of BCC is unknown but is believed to be a complex genetic disorder. Our goal was to estimate the heritability (h2SNP) of BCC, define its underlying genetic architecture, and identify associated genomic loci using dense whole-genome single-nucleotide polymorphism (SNP) genotyping data. Genotype data were obtained for ~440,000 SNPs from 343 border collies (168 BCC cases and 175 controls). h2SNP was calculated to be 49–61% depending on the estimated BCC prevalence. A total of 2407 SNPs across the genome accounted for nearly all the h2SNP of BCC, with an estimated 2003 SNPs of small effect, 349 SNPs of moderate effect, and 56 SNPs of large effect. Genome-wide association analyses identified significantly associated loci on chromosomes 1, 6, 11, 20, and 28, which accounted for ~5% of the total BCC h2SNP. We conclude that BCC is a moderately- to highly- heritable complex polygenetic disease resulting from contributions from hundreds to thousands of genetic variants with variable effect sizes. Understanding how much the BCC phenotype is determined by genetics and whether major gene mutations are likely to exist inform veterinarians and working/stock dog communities of the true nature of this condition.

Exercise-Induced Fibrinolysis – Fact or Fiction?

1982 ◽  
Vol 48 (02) ◽  
pp. 201-203 ◽  
Author(s):  
N A Marsh ◽  
P J Gaffney
Keyword(s):  
Plasminogen Activator ◽  
Degradation Products ◽  
Coagulation Factors ◽  
Vascular Wall ◽  
Strenuous Exercise ◽  
Fibrin Degradation Products ◽  
Real Increase ◽  
Exercise Induced ◽  
Male Subjects

SummaryThe effect of strenuous exercise on the fibrinolytic and coagulation mechanisms was examined in six healthy male subjects. Five min bicycle exercise at a work-rate of 800 to 1200 kpm. min−1 produced an abrupt increase in plasma plasminogen activator levels which disappeared after 90 min. However, there was no change in early or late fibrin degradation products nor was there a change in fibrinopeptide A levels or βthromboglobulin levels after exercise although activated partial thromboplastin times were significantly shortened. It is concluded that strenuous exercise does not produce any real increase in fibrinogen-fibrin conversion nor any real increase in the breakdown of these proteins. The role of exercise-induced release of plasminogen activator remains unclear, but probably helps to maintain plasma levels in a discontinuous manner concurrently with the continuous low-level secretion from the vascular wall. The shortening of partial thromboplastin time may be due to the raised levels of plasminogen activator changing the activation state of other coagulation factors.

scholarly journals Polymorphism Detection of GDF9 Gene and Its Association with Litter Size in Luzhong Mutton Sheep (Ovis aries)

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 571
Author(s):  
Fengyan Wang ◽  
Mingxing Chu ◽  
Linxiang Pan ◽  
Xiangyu Wang ◽  
Xiaoyun He ◽  
...  
Keyword(s):  
Litter Size ◽  
Tertiary Structure ◽  
Novel Mutation ◽  
Major Gene ◽  
Ovis Aries ◽  
Nucleotide Polymorphisms ◽  
Economic Traits ◽  
Coding Region ◽  
Association Analyses ◽  
Gdf9 Gene

Litter size is one of the most important economic traits in sheep. GDF9 and BMPR1B are major genes affecting the litter size of sheep. In this study, the whole coding region of GDF9 was sequenced and all the SNPs (single nucleotide polymorphisms) were determined in Luzhong mutton ewes. The FecB mutation was genotyped using the Sequenom MassARRAY®SNP assay technology. Then, the association analyses between polymorphic loci of GDF9 gene, FecB, and litter size were performed using a general linear model procedure. The results showed that eight SNPs were detected in GDF9 of Luzhong mutton sheep, including one novel mutation (g.41769606 T > G). The g.41768501A > G, g.41768485 G > A in GDF9 and FecB were significantly associated with litter size in Luzhong mutton ewes. The g.41768485 G > A is a missense mutation in the mature GDF9 protein region and is predicted to affect the tertiary structure of the protein. The results preliminarily demonstrated that GDF9 was a major gene affecting the fecundity of Luzhong mutton sheep and the two loci g.41768501A > G and g.41768485 G > A may be potential genetic markers for improving litter size.

scholarly journals Regular consumption of cod liver oil is associated with reduced basal and exercise-induced C-reactive protein levels; a prospective observational trial

2021 ◽  
Vol 18 (1) ◽  
Author(s):  
Mette Wærstad Hansen ◽  
Stein Ørn ◽  
Christine B. Erevik ◽  
Magnus Friestad Bjørkavoll-Bergseth ◽  
Øyvind Skadberg ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Strenuous Exercise ◽  
Cod Liver Oil ◽  
Omega 3 ◽  
C Reactive Protein ◽  
Omega 3 Fatty Acid ◽  
Recreational Athletes ◽  
Reactive Protein ◽  
Supplement Use ◽  
Exercise Induced

Abstract Background Dietary supplement use among recreational athletes is common, with the intention of reducing inflammation and improving recovery. We aimed to describe the relationship between omega-3 fatty acid supplement use and inflammation induced by strenuous exercise. Methods C-reactive protein (CRP) concentrations were measured in 1002 healthy recreational athletes before and 24 h after a 91-km bicycle race. The use of omega-3 fatty acid supplements was reported in 856 out of 1002 recreational athletes, and the association between supplement use and the exercise-induced CRP response was assessed. Results Two hundred seventy-four subjects reported regular use of omega-3 fatty acid supplements. One hundred seventy-three of these used cod liver oil (CLO). Regular users of omega-3 fatty acid supplements had significantly lower basal and exercise-induced CRP levels as compared to non-users (n = 348, p < 0.001). Compared to non-users, regular users had a 27% (95% confidence interval (CI): 14–40) reduction in Ln CRP response (unadjusted model, p < 0.001) and 16% (95% CI: 5–28, p = 0.006) reduction after adjusting for age, sex, race duration, body mass index, delta creatine kinase, MET hours per week, resting heart rate and higher education. CLO was the primary driver of this response with a 34% (95% CI: 19–49) reduction (unadjusted model, p < 0.001) compared to non-users. Corresponding numbers in the adjusted model were 24% (95% CI: 11–38, p < 0.001). Conclusion Basal CRP levels were reduced, and the exercise-induced CRP response was attenuated in healthy recreational cyclists who used omega-3 fatty acid supplements regularly. This effect was only present in regular users of CLO. Trial registration NCT02166216, registered June 18, 2014 – Retrospectively registered.

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

Is there an exercise duration threshold for exercise-induced troponin elevation in healthy recreational athletes? The NEEDED 2014 advanced heart rate monitor substudy

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
M Bjorkavoll-Bergseth ◽  
B Auestad ◽  
O Kleiven ◽  
O Skadberg ◽  
T Eftestol ◽  
...  
Keyword(s):  
Heart Rate ◽  
Clinical Status ◽  
Exercise Duration ◽  
Strenuous Exercise ◽  
Clinical Consequence ◽  
Funding Source ◽  
Recreational Athletes ◽  
National Budget ◽  
Exercise Induced ◽  
Public Grant

Abstract Background/Introduction Following prolonged strenuous exercise there is an exercise-induced troponin (cTn) elevation in healthy individuals. The precise mechanisms and clinical consequence of this cTn elevation remain to be determined. It has recently been demonstrated that exercise intensity, exceeding a heart rate (HR) of 150 bpm, is correlated with exercise-induced cTn elevation. Purpose The present work aims to determine if there is a threshold for exercise duration with a HR exceeding 150 bpm associated with an excessive exercise-induced cTn elevation. Methods A total of 177 healthy subjects were included in the present analysis of HR data obtained from sport watches used during a 91-km recreational mountain bike cycle race. Clinical status, cTnI, ECGs, blood pressure and demographics were obtained 24 h prior to- and at 3 h and 24 h after the race. Results are reported as median and 25th and 75th percentile. We used Tree regression to determine the association between elevated cTnI and exercise duration exceeding a HR of 150 bpm. Results Subjects were 82% (n=146) males, 44 (39–51) years, with a race time of 3.5 (3.1–3.9) h. Baseline cTnI was 1.9 (1.6–3.3) ng/L. There was a cTnI elevation in all study participants at 3 h, cTnI: 60.0 (36.0–99.3) ng/L, with a significant (p&lt;0.001) reduction at 24 hours following exercise, cTnI: 10.9 (6.1–22.4) ng/L. Tree regression identified 168 min of exercise, with a HR exceeding 150 bpm, to be associated with an excessive increase in cTnI both at 3 h, and at 24 h following the race (figure). The median cTn values above and below the threshold are presented in the Table. Conclusion The present analysis suggests that exceeding a specific duration of high intensity exercise may be associated with excessive cTn elevation in susceptible individuals. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Western Norway Health authoritites.

Grading, Time Course, and Incidence of Exercise-Induced nduced Airway Obstruction and Hyperinflation in Asthmatic Children

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5s) ◽  
pp. 868-879
Author(s):  
Gerd J. A. Cropp ◽  
I. J. Schmultzler
Keyword(s):  
Pulmonary Function ◽  
Airway Obstruction ◽  
Clinical Status ◽  
Small Airway ◽  
Strenuous Exercise ◽  
Normal Children ◽  
Asthmatic Children ◽  
Ergometer Exercise ◽  
Exercise Induced ◽  
Small Airway Obstruction

We evaluated clinical status and pulmonary function in 60 perennially asthmatic and 11 normal children before and repeatedly after incrementally increasing bicycle ergometer exercise. The changes in clinical status and pulmonary function which were elicited by strenuous exercise were graded by an air exchange and a physiological grading system respectively. Normal children showed no significant clinical or physiological changes after exercise. Strenuous exercise elicited significant deteriorations in clinical and physiological measurements in 36% to 77% of asthmatic girls and 46% to 90% of asthmatic boys, the frequency depending on the test used to determine exercise-induced abnormalities. The incidence of exercise-induced asthma (EIA) was statistically significantly higher in asthmatic boys than girls. The higher incidence of EIA in boys was primarily due to a larger number of very severe attacks in boys than girls; mild and moderate EIA was about equally common in the two sexes. Most patients with EIA developed large and small airway obstruction, although large airway obstruction tended to be the predominant and the more severe abnormality. Clinical and physiological abnormalities, regardless of severity, were usually most marked during the first ten minutes after exercise and lessened thereafter. Mild EIA usually lasted for only 15 minutes or less; severe EIA improved, but usually did not resolve within 35 minutes of exercise. There were three patients in whom the severity of EIA got worse after exercise and an additional seven in whom the improvement was minimal. In these ten patients isoproterenol aerosol terminated EIA, indicating that exercise-induced large and small airway obstruction in asthmatic children is primarily. if not solely. due to bronchospasm.

Relationship between exercise-induced systemic inflammatory like reaction and racing performance in endurance horses

2012 ◽  
Vol 8 (3-4) ◽  
pp. 213-218 ◽  
Author(s):  
D. Serteyn ◽  
I. Caudron ◽  
J.-P. Lejeune ◽  
D. Votion ◽  
J. Ceusters ◽  
...  
Keyword(s):  
Plasma Concentrations ◽  
Significant Negative Correlation ◽  
Strenuous Exercise ◽  
Related Factors ◽  
Mean Values ◽  
Racing Performance ◽  
Intrinsic Capacity ◽  
Exercise Induced ◽  
Race Performance ◽  
Voluntary Basis

Endurance race induces a rise of serum creatine kinase (CK) activity and a systemic inflammatory like response characterised by an increase of neutrophil counts, plasma and muscle myeloperoxidase (MPO) and elastase (ELT) concentrations in horses. Horses performing the same standardised exercise test do not respond with the same magnitude of inflammatory reaction. The aim of the present study was to measure the total neutrophil count, the ratio neutrophil:lymphocyte, the MPO and ELT plasma concentrations and concomitant increases of serum CK activities in competing endurance horse and to relate these results to their race performance. Twenty one horses participating in a 120 km 4 star endurance race recruited on a voluntary basis finished the race with a mean speed ranging from 13.1 to 19.8 km/h. Blood was taken the day before the race and two hours after the race. Mean values of neutrophil counts, ratio neutrophil:lymphocyte, plasma MPO and ELT concentrations and serum CK activities after the race were significantly higher than the pre-race values. There was no correlation between neutrophil counts, MPO, ELT or CK and the mean speed of the horses during the race except for the ratio neutrophil:lymphocyte where a significant negative correlation was observed. These results showed that systemic responses induced by strenuous exercise such as an endurance race is not clearly related to performance but also to horse-related factors, such as intrinsic capacity or training.

Marked differences in functioning of the hypothalamicpituitary-adrenal axis between groups of men

1997 ◽  
Vol 82 (6) ◽  
pp. 1979-1988 ◽  
Author(s):  
John S. Petrides ◽  
Philip W. Gold ◽  
Gregory P. Mueller ◽  
Anita Singh ◽  
Costas Stratakis ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Plasma Cortisol ◽  
Hormone Secretion ◽  
Growth Hormone Secretion ◽  
Strenuous Exercise ◽  
Plasma Acth ◽  
Hypothalamic Pituitary Adrenal ◽  
Adrenal Axis ◽  
Low Responders ◽  
Exercise Induced

Petrides, John S., Philip W. Gold, Gregory P. Mueller, Anita Singh, Costas Stratakis, George P. Chrousos, and Patricia A. Deuster.Marked differences in functioning of the hypothalamic-pituitary-adrenal axis between groups of men. J. Appl. Physiol. 82(6): 1979–1988, 1997.—To compare profiles of hypothalamic-pituitary-adrenal (HPA) responsiveness, healthy, moderately trained men ( n = 15) were classified as high ( n = 7) or low responders ( n = 8) on the basis of plasma adrenocorticotropic hormone (ACTH) responses to strenuous treadmill exercise 4 h after 4 mg of dexamethasone (Dex). These groups were then evaluated to compare 1) HPA and growth hormone responses to exercise at 90% maximal oxygen uptake 4 h after placebo, Dex (4 mg), and hydrocortisone (100 mg); 2) pituitary-adrenal responses to infusion of arginine vasopressin (AVP); 3) plasma cortisol after a Dex suppression test (1 mg); and 4) behavioral characteristics. In comparison to low responders, high responders exhibited significantly 1) higher plasma ACTH responses to exercise after placebo and Dex; 2) higher plasma AVP secretion with exercise after placebo and marked Dex- and hydrocortisone-induced enhancement of exercise-induced AVP secretion; 3) lower Dex-induced increases in basal and stimulated growth hormone secretion; 4) higher plasma ACTH responses to infusion of AVP; and 5) a trend ( P = 0.09) for higher trait anxiety ratings. Similar suppression of plasma cortisol was noted after 1 mg Dex. We conclude that subgroups of healthy male volunteers exhibit unique profiles of HPA responsiveness. We also believe that glucocorticoid pretreatment combined with strenuous exercise allows functional HPA responsiveness to be distinguished between subgroups of healthy controls and may be useful in the determination of susceptibility to disorders characterized by hyper- and hypo-HPA activation.

Loss of FancC Function Results in Decreased Hematopoietic Stem Cell Repopulating Ability

Blood ◽  
1999 ◽  
Vol 94 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Laura S. Haneline ◽  
Troy A. Gobbett ◽  
Rema Ramani ◽  
Madeleine Carreau ◽  
Manuel Buchwald ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell ◽  
Cell Function ◽  
Genetic Disorder ◽  
Test Cell ◽  
Hematopoietic Stem ◽  
Murine Homologue ◽  
Complex Genetic Disorder

Fanconi anemia (FA) is a complex genetic disorder characterized by progressive bone marrow (BM) aplasia, chromosomal instability, and acquisition of malignancies, particularly myeloid leukemia. We used a murine model containing a disruption of the murine homologue ofFANCC (FancC) to evaluate short- and long-term multilineage repopulating ability of FancC −/− cells in vivo. Competitive repopulation assays were conducted where “test”FancC −/− or FancC +/+ BM cells (expressing CD45.2) were cotransplanted with congenic competitor cells (expressing CD45.1) into irradiated mice. In two independent experiments, we determined that FancC −/− BM cells have a profound decrease in short-term, as well as long-term, multilineage repopulating ability. To determine quantitatively the relative production of progeny cells by each test cell population, we calculated test cell contribution to chimerism as compared with 1 × 105 competitor cells. We determined that FancC −/− cells have a 7-fold to 12-fold decrease in repopulating ability compared with FancC +/+cells. These data indicate that loss of FancC function results in reduced in vivo repopulating ability of pluripotential hematopoietic stem cells, which may play a role in the development of the BM failure in FA patients. This model system provides a powerful tool for evaluation of experimental therapeutics on hematopoietic stem cell function.

scholarly journals Ghrelin-Reactive Autoantibodies are elevated in Children with Prader-Willi Syndrome

2016 ◽  
Author(s):  
Gabrielle Crisp ◽  
Ohn Nyunt ◽  
Lisa Chopin ◽  
Inge Seim ◽  
Mark Harris ◽  
...  
Keyword(s):  
Pediatric Population ◽  
Genetic Disorder ◽  
Peptide Hormone ◽  
Prader Willi Syndrome ◽  
Acylated Ghrelin ◽  
Carrier Proteins ◽  
Unacylated Ghrelin ◽  
Complex Genetic Disorder ◽  
Growth Abnormalities ◽  
Insatiable Appetite

AbstractPrader-Willi Syndrome (PWS) is a complex genetic disorder characterized by developmental and growth abnormalities, insatiable appetite, and excessive eating (hyperphagia). The underlying cause of hyperphagia in PWS is currently unknown, however, elevated levels of the peptide hormone ghrelin is believed to contribute. Recently, ghrelin-reactive autoantibodies (isotype IgG) were identified in non-genetic obesity. These autoantibodies act as ghrelin carrier proteins and potentiate its orexigenic effects. Here, we describe the identification of ghrelin-reactive autoantibodies in a cohort of 16 children with PWS. In comparison to unaffected siblings, autoantibody levels are significantly increased in PWS children. We further show that autoantibody levels are unaffected by food intake, unlike plasma ghrelin which declines postprandially in both groups. Critically, we also demonstrate that the autoantibodies bind the major circulating ghrelin isoforms, unacylated ghrelin, which does not stimulate appetite, and the orexigen acylated ghrelin. In excess, unacylated ghrelin may compete with acylated ghrelin for autoantibody binding. Taken together, this is the first report on ghrelin-reactive antibodies in a pediatric population, and the first to demonstrate that the antibodies do not discriminate between orexigenic and non-orexigenic ghrelin isoforms. Our work suggests that ghrelin autoantibodies can be targeted using non-orexigenic forms of ghrelin, thereby providing a novel therapeutic target for PWS and for obesity in general.

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