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Topic:Genetics

Genetics in horses encompasses the study of hereditary traits and the genetic makeup that influences various characteristics and health conditions in equine populations. This field involves the analysis of genes and their functions, inheritance patterns, and the impact of genetic variations on traits such as coat color, performance ability, and susceptibility to diseases. Research in equine genetics employs techniques such as genome mapping, sequencing, and genetic testing to identify specific genes and mutations associated with these traits. This page gathers peer-reviewed research studies and scholarly articles that explore the genetic basis of equine traits, the methodologies used in genetic research, and the implications for breeding, health management, and conservation of horse breeds.
Equine recurrent uveitis: classification, etiology, and pathogenesis.
Compendium (Yardley, PA)    August 27, 2011   Volume 33, Issue 6 E2 
Curling A.Equine recurrent uveitis is a cyclical disease that affects the eye and often leads to high management costs and unfavorable results, such as blindness. Research has improved understanding of the roles of various etiologies, especially leptospirosis, in initiating and perpetuating the pathogenesis of equine recurrent uveitis. Research has also led to the discovery that specific breeds and horses with specific coat color patterns may be predisposed to developing recurrent uveitis.
Temporal relationships of a pulse of prolactin (PRL) to a pulse of a metabolite of PGF2α in mares.
Theriogenology    August 26, 2011   Volume 77, Issue 1 99-107 doi: 10.1016/j.theriogenology.2011.07.021
Ginther OJ, Pinaffi FL, Silva LA, Beg MA.Hourly blood samples were collected from 10 mares during 24 h of each of the preluteolytic, luteolytic, and postluteolytic periods. The autocorrelation function of the R program was used to detect pulse rhythmicity, and the intra-assay CV was used to locate and characterize pulses of prolactin (PRL) and a metabolite of prostaglandin F2α (PGFM). Rhythmicity of PRL and PGFM concentrations was detected in 67% and 89% of mares, respectively. Combined for the three periods (no difference among periods), the PRL pulses were 5.2±0.4 h (mean±SEM) at the base, 7.5±1.5 h between nadirs of adjacent p...
Optimization of the isolation, culture, and characterization of equine umbilical cord blood mesenchymal stromal cells.
Tissue engineering. Part C, Methods    August 26, 2011   Volume 17, Issue 11 1061-1070 doi: 10.1089/ten.tec.2011.0052
De Schauwer C, Meyer E, Cornillie P, De Vliegher S, van de Walle GR, Hoogewijs M, Declercq H, Govaere J, Demeyere K, Cornelissen M, Van Soom A.Mesenchymal stromal cells (MSC) represent a promising population for supporting new clinical concepts in cellular therapy. A wide diversity of isolation procedures for MSC from umbilical cord blood (UCB) has been described for humans. In contrast, a few data are available in horses. In the current study, a sedimentation method using hydroxyethyl starch and a method based on the lysis of red blood cells using ammonium chloride (NH(4)Cl) were compared with two density gradient separation methods (Ficoll-Paque and Percoll). Adherent cell colonies could be established using all four isolation meth...
The steroid catabolic pathway of the intracellular pathogen Rhodococcus equi is important for pathogenesis and a target for vaccine development.
PLoS pathogens    August 25, 2011   Volume 7, Issue 8 e1002181 doi: 10.1371/journal.ppat.1002181
van der Geize R, Grommen AW, Hessels GI, Jacobs AA, Dijkhuizen L.Rhodococcus equi causes fatal pyogranulomatous pneumonia in foals and immunocompromised animals and humans. Despite its importance, there is currently no effective vaccine against the disease. The actinobacteria R. equi and the human pathogen Mycobacterium tuberculosis are related, and both cause pulmonary diseases. Recently, we have shown that essential steps in the cholesterol catabolic pathway are involved in the pathogenicity of M. tuberculosis. Bioinformatic analysis revealed the presence of a similar cholesterol catabolic gene cluster in R. equi. Orthologs of predicted M. tuberculosis vi...
Discovery of lost diversity of paternal horse lineages using ancient DNA.
Nature communications    August 23, 2011   Volume 2 450 doi: 10.1038/ncomms1447
Lippold S, Knapp M, Kuznetsova T, Leonard JA, Benecke N, Ludwig A, Rasmussen M, Cooper A, Weinstock J, Willerslev E, Shapiro B, Hofreiter M.Modern domestic horses display abundant genetic diversity within female-inherited mitochondrial DNA, but practically no sequence diversity on the male-inherited Y chromosome. Several hypotheses have been proposed to explain this discrepancy, but can only be tested through knowledge of the diversity in both the ancestral (pre-domestication) maternal and paternal lineages. As wild horses are practically extinct, ancient DNA studies offer the only means to assess this ancestral diversity. Here we show considerable ancestral diversity in ancient male horses by sequencing 4 kb of Y chromosomal DNA ...
Genetic characterization of equine adenovirus type 1.
Veterinary microbiology    August 22, 2011   Volume 155, Issue 1 33-37 doi: 10.1016/j.vetmic.2011.08.014
Cavanagh HM, Mahony TJ, Vanniasinkam T.Two known serotypes of equine adenovirus (EAdV), equine adenovirus type 1 (EAdV-1) and equine adenovirus type 2 (EAdV-2) have been isolated from horses. EAdV-1 is predominantly associated with upper respiratory tract infections while EAdV-2 appears to be associated with gastrointestinal infections in horses. In this report the EAdV-1 genome has been sequenced for the first time. The EAdV-1 genome encoded genes are characteristic of the Mastadenovirus genus such as protein V and IX. Unexpectedly, phylogenetic reconstructions also revealed a close relationship between EAdV-1 and two recently cha...
Effects of muscarinic receptor antagonists on acetylcholine-induced contractions of jejunal smooth muscle in horses.
Journal of veterinary pharmacology and therapeutics    August 21, 2011   Volume 35, Issue 4 313-318 doi: 10.1111/j.1365-2885.2011.01330.x
Teixeira-Neto FJ, McDonell WN, Black WD, Harris W, Grovum L.This study investigated the effects of a muscarinic type 1 (M(1)), 2 (M(2)), and 3 (M(3)) antagonists (4-DAMP, pirenzepine, and methoctramine, respectively) on acetylcholine (Ach)-induced contractions of longitudinal jejunal muscle strips of horses. Strips were irrigated with Krebs-Henseleit solution gassed with 95% O(2) and 5% CO(2), and the developed tension in response to Ach was recorded before and after incubation with increasing concentrations of 4-DAMP (10(-8)-10(-6) M), pirenzepine (10(-6)-10(-4) M), and methoctramine (10(-5)-10(-3) M). When competitive antagonism was characterized, th...
Production of live foals via intracytoplasmic injection of lyophilized sperm and sperm extract in the horse.
Reproduction (Cambridge, England)    August 16, 2011   Volume 142, Issue 4 529-538 doi: 10.1530/REP-11-0145
Choi YH, Varner DD, Love CC, Hartman DL, Hinrichs K.Work with lyophilized sperm helps delineate the factors required for successful fertilization. We investigated the use of lyophilized sperm in equine embryo production. In Experiment 1, sperm DNA fragmentation index was not affected by three freeze/thaw or lyophilization cycles. In Experiment 2, oocytes injected with lyophilized sperm or with sperm from a treatment in which lyophilized sperm were suspended in sperm cytoplasmic extract (SE) yielded blastocyst development rates of 0 and 28% respectively (P < 0.05). In Experiment 3, blastocyst development rate was 6-11% after injection of sper...
Cryopreservation and fertility of ejaculated and epididymal stallion sperm.
Animal reproduction science    August 16, 2011   Volume 127, Issue 3-4 197-201 doi: 10.1016/j.anireprosci.2011.08.002
Monteiro GA, Papa FO, Zahn FS, Dellaqua JA, Melo CM, Maziero RR, Avanzi BR, Alvarenga MA, Guasti PN.The cryopreservation of epididymal sperm is important to preserve genetic material from valuable deceased males. This study evaluated the viability of sperm samples from eight stallions under three conditions: (1) collected using an artificial vagina (EJ-0h), (2) recovered from the epididymal cauda immediately after orchiectomy (EP-0h), and (3) recovered from the epididymal cauda after 24h of storage at 5°C (EP-24h). To obtain EJ-0h sperm, two ejaculates were collected from each stallion. After 1 week, the stallions were submitted to bilateral orchiectomy, and one of the removed epididymides ...
Seasonal dynamics of biting midges (Diptera: Ceratopogonidae: Culicoides), the potential vectors of bluetongue virus, in Sweden.
Veterinary parasitology    August 16, 2011   Volume 184, Issue 1 59-67 doi: 10.1016/j.vetpar.2011.08.009
Ander M, Meiswinkel R, Chirico J.The outbreak of bluetongue (BT) in northern Europe 2006 initiated the monitoring of vectors, biting midges of the genus Culicoides in Sweden. In order to determine the diversity, distribution and seasonal dynamics of Culicoides, weekly collections were made during 2008 and during March-December 2009 using the Ondestepoort Veterinary Institute black light trap. Twenty sampling sites were selected in 12 provinces. In total of 30,704 Culicoides were collected in 2008 and 32,252 in 2009. The most abundant species were the potential vectors of BTV Culicoides obsoletus/C. scoticus that comprised of ...
Genetic variants of Anaplasma phagocytophilum from 14 equine granulocytic anaplasmosis cases.
Parasites & vectors    August 16, 2011   Volume 4 161 doi: 10.1186/1756-3305-4-161
Silaghi C, Liebisch G, Pfister K.Equine Granulocytic Anaplasmosis (EGA) is caused by Anaplasma phagocytophilum, a tick-transmitted, obligate intracellular bacterium. In Europe, it is transmitted by Ixodes ricinus. A large number of genetic variants of A. phagocytophilum circulate in nature and have been found in ticks and different animals. Attempts have been made to assign certain genetic variants to certain host species or pathologies, but have not been successful so far. The purpose of this study was to investigate the causing agent A. phagocytophilum of 14 cases of EGA in naturally infected horses with molecular methods o...
Comparison of genomic and proteomic data in recurrent airway obstruction affected horses using Ingenuity Pathway Analysis®.
BMC veterinary research    August 15, 2011   Volume 7 48 doi: 10.1186/1746-6148-7-48
Racine J, Gerber V, Feutz MM, Riley CP, Adamec J, Swinburne JE, Couetil LL.Recurrent airway obstruction (RAO) is a severe chronic respiratory disease affecting horses worldwide, though mostly in the Northern hemisphere. Environmental as well as genetic factors strongly influence the course and prognosis of the disease. Research has been focused on characterization of immunologic factors contributing to inflammatory responses, on genetic linkage analysis, and, more recently, on proteomic analysis of airway secretions from affected horses. The goal of this study was to investigate the interactions between eight candidate genes previously identified in a genetic linkage...
Genome-wide association studies for osteochondrosis in French Trotter horses.
Journal of animal science    August 12, 2011   Volume 90, Issue 1 45-53 doi: 10.2527/jas.2011-4031
Teyssèdre S, Dupuis MC, Guérin G, Schibler L, Denoix JM, Elsen JM, Ricard A.A genome-wide association study for osteochondrosis (OC) in French Trotter horses was carried out to detect QTL using genotype data from the Illumina EquineSNP50 BeadChip assay. Analysis data came from 161 sire families of French Trotter horses with 525 progeny and family sizes ranging from 1 to 20. Genotypes were available for progeny (n = 525) and sires with at least 2 progeny (n = 98). Radiographic data were obtained from progeny using at least 10 views to reveal OC. All radiographic findings were described by at least 2 veterinary experts in equine orthopedics, and severity indices (scores...
Sequence variants at the myostatin gene locus influence the body composition of Thoroughbred horses.
The Journal of veterinary medical science    August 11, 2011   Volume 73, Issue 12 1617-1624 doi: 10.1292/jvms.11-0295
Tozaki T, Sato F, Hill EW, Miyake T, Endo Y, Kakoi H, Gawahara H, Hirota K, Nakano Y, Nambo Y, Kurosawa M.Myostatin is a member of the transforming growth factor-β family with a key role in inhibition of muscle growth by negative regulation of both myoblast proliferation and differentiation. Recently, a genomic region on ECA18, which includes the MSTN gene, was identified as a candidate region influencing racing performance in Thoroughbreds. In this study, four SNPs on ECA18, g.65809482T>C, g.65868604G>T, g.66493737C>T, and g.66539967A>G, were genotyped in 91 Thoroughbred horses-in-training to evaluate the association between genotype and body composition traits, including body weight...
Evaluation of two magnetic-bead-based viral nucleic acid purification kits and three real-time reverse transcription-PCR reagent systems in two TaqMan assays for equine arteritis virus detection in semen.
Journal of clinical microbiology    August 10, 2011   Volume 49, Issue 10 3694-3696 doi: 10.1128/JCM.01187-11
Miszczak F, Shuck KM, Lu Z, Go YY, Zhang J, Sells S, Vabret A, Pronost S, Fortier G, Timoney PJ, Balasuriya UB.This study showed that under specifically defined conditions with respect to nucleic acid extraction method and testing reagents, a previously described real-time reverse transcription-PCR (rRT-PCR) assay (T1 assay) provides sensitivity equal to or higher than that of virus isolation for the detection of equine arteritis virus in semen.
Review of seven cases of granulosa cell tumour of the equine ovary.
The Veterinary record    August 10, 2011   Volume 169, Issue 10 251 doi: 10.1136/vr.d4635
Crabtree J.This paper reviews the equine granulosa cell tumour (GCT) and describes the clinicopathological features, treatment and outcome in seven cases of GCT in mares. Mares were presented with unilateral ovarian enlargement during the 2007 to 2010 breeding seasons. The mean (sd) age of the mares was 11.7 (5.96) years. Three mares were multiparous barren, three were nulliparous and one was primigravida. Behaviour at presentation was 57 per cent anoestrus, 28 per cent with stallion-like behaviour and 14 per cent with persistent oestrus. All mares had unilateral ovarian enlargement. Six non-pregnant mar...
Heaves, an asthma-like disease of horses.
Respirology (Carlton, Vic.)    August 10, 2011   Volume 16, Issue 7 1027-1046 doi: 10.1111/j.1440-1843.2011.02033.x
Leclere M, Lavoie-Lamoureux A, Lavoie JP.Animal models have been developed to investigate specific components of asthmatic airway inflammation, hyper-responsiveness or remodelling. However, all of these aspects are rarely observed in the same animal. Heaves is a naturally occurring disease of horses that combines these features. It is characterized by stable dust-induced inflammation, bronchospasm and remodelling. The evaluation of horses during well-controlled natural antigen exposure and avoidance in experimental settings allows the study of disease mechanisms in the asymptomatic and symptomatic stages, an approach rarely feasible ...
Prevalence of equine herpesvirus type 1 strains of neuropathogenic genotype in a major breeding area of Japan.
The Journal of veterinary medical science    August 9, 2011   Volume 73, Issue 12 1663-1667 doi: 10.1292/jvms.11-0140
Tsujimura K, Oyama T, Katayama Y, Muranaka M, Bannai H, Nemoto M, Yamanaka T, Kondo T, Kato M, Matsumura T.A single non-synonymous nucleotide substitution of guanine (G) for adenine (A) at position 2254 in the viral DNA polymerase gene (encoded by open reading frame [ORF] 30) of equine herpesvirus type 1 (EHV-1) has been significantly associated with neuropathogenic potential in strains of this virus. To estimate the prevalence of EHV-1 strains with the neuropathogenic genotype (ORF30 G(2254)) in the Hidaka district--a major horse breeding area in Japan--we analyzed the ORF30 genomic region in cases of EHV-1 infection in this area during the years 2001-2010. Of the 113 cases analyzed, 3 (2.7%) were...
Antibody drug conjugates – Trojan horses in the war on cancer.
Journal of pharmacological and toxicological methods    August 6, 2011   Volume 64, Issue 3 207-212 doi: 10.1016/j.vascn.2011.07.005
Iyer U, Kadambi VJ.Antibody drug conjugates (ADCs) consist of an antibody attached to a cytotoxic drug by means of a linker. ADCs provide a way to couple the specificity of a monoclonal antibody (mAb) to the cytotoxicity of a small-molecule drug and, therefore, are promising new therapies for cancer. ADCs are prodrugs that are inactive in circulation but exert their cytotoxicity upon binding to the target cancer cell. Earlier unsuccessful attempts to generate ADCs with therapeutic value have emphasized the important role each component plays in determining the efficacy and safety of the final ADC. Scientific adv...
In vitro electrical activity of the equine pelvic flexure.
Equine veterinary journal. Supplement    August 4, 2011   Issue 39 145-148 doi: 10.1111/j.2042-3306.2011.00396.x
Fintl C, Pearson GT, Mayhew IG, Hudson NP.The generation and maintenance of intestinal motility patterns involve the complex interactions of several components including the gastrointestinal pacemaker cells (interstitial cells of Cajal, ICC). Central to ICC function is the generation of rhythmic pacemaker currents, namely slow waves, which represent the rate limiting step for intestinal smooth muscle contractions. Currently, intracellular slow wave activity has not been demonstrated in the equine colon. Objective: To characterise the in vitro myoelectrical activity of the equine pelvic flexure using intracellular recording techniques....
Potential of vaccination to confound interpretation of real-time PCR results for equine influenza.
The Veterinary record    August 3, 2011   Volume 169, Issue 10 252 doi: 10.1136/vr.d4300
Diallo IS, Read AJ, Kirkland PD.No abstract available
Eca20 microsatellite polymorphisms in equine viral arteritis-infected horses from Argentina.
Tissue antigens    August 3, 2011   Volume 78, Issue 4 281-284 doi: 10.1111/j.1399-0039.2011.01743.x
Kalemkerian PB, Metz GE, Peral-García P, Lopez-Gappa J, Echeverría MG, Giovambattista G, Díaz S.We investigated the association of equine arteritis virus (EAV) infection and three short tandem repeat (STR) polymorphisms located within or in close proximity to equine lymphocyte antigen (ELA) region. We used a case-control design as a first approach before proceeding to select candidate genes. One hundred and sixty-five Silla Argentino horses were taken in 2002 from positive serological detections of EAV in Argentina, to determine whether STR genotypes were correlated to genetic susceptibility to EVA. Allele frequency distribution did not show significant differences between both groups (P...
The additional N-glycosylation site of the equine LH/CG receptor is not responsible for the limited cyclic AMP pathway activation by equine chorionic gonadotropin relative to luteinizing hormone.
Reproductive biology    August 2, 2011   Volume 11, Issue 2 157-164 doi: 10.1016/s1642-431x(12)60052-7
Saint-Dizier M, Foulon-Gauze F, Lecompte F, Combarnous Y, Chopineau M.In order to investigate the role of the unique seventh N23-glycosylation site of the equine LH/CG receptor (eLHCGR) in the cAMP pathway activation, COS-7 cells were transiently transfected with either the wild-type or the mutant eLHCGR(N23Q) cDNA and challenged with porcine LH and eCG for cAMP production. We showed that the N23-glycosylation site of the eLHCGR is not required for the functional coupling of the receptor with the cAMP pathway and is not responsible for the limited potency of eCG relative to pLH to activate this receptor.
Isolation and characterization of multipotent mesenchymal stromal cells from the gingiva and the periodontal ligament of the horse.
BMC veterinary research    August 2, 2011   Volume 7 42 doi: 10.1186/1746-6148-7-42
Mensing N, Gasse H, Hambruch N, Haeger JD, Pfarrer C, Staszyk C.The equine periodontium provides tooth support and lifelong tooth eruption on a remarkable scale. These functions require continuous tissue remodeling. It is assumed that multipotent mesenchymal stromal cells (MSC) reside in the periodontal ligament (PDL) and play a crucial role in regulating physiological periodontal tissue regeneration. The aim of this study was to isolate and characterize equine periodontal MSC. Tissue samples were obtained from four healthy horses. Primary cell populations were harvested and cultured from the gingiva, from three horizontal levels of the PDL (apical, midtoo...
Permeability of the equine embryonic capsule to ethylene glycol and glycerol in vitro.
Theriogenology    July 31, 2011   Volume 76, Issue 8 1540-1551 doi: 10.1016/j.theriogenology.2011.06.026
Kingma SE, Thibault ME, Betteridge KJ, Schlaf M, Gartley CJ, Chenier TS.Poor survival of cryopreservation by equine expanded blastocysts may involve low penetration of the embryonic capsule by cryoprotective agents (CPAs). This study characterized the permeation and accumulation rates of the CPAs ethylene glycol (EG) and glycerol (GLY) across isolated capsule in vitro, using a dual-chambered Valia-Chien permeation apparatus. Pieces of Days 14 to 18 ± 1 capsules separated media in the "donor" chamber containing either 1.5 M EG (n = 6), 0.74 M EG (n = 5), 0.87 M GLY (n = 7), or 0.15 M NaCl (saline, SAL) (n = 6), from the "recipient" chamber. Concentrations of CPA, ...
Endovascular aortic stent graft infection with Streptococcus equi: the first documented case.
Vascular    July 29, 2011   Volume 21, Issue 1 14-16 doi: 10.1258/vasc.2010.cr0258
Parmar J, Winterbottom A, Cooke F, Lever AM, Gaunt M.Streptococcus equi is a common equine infectious disease, but transmission to man is rare and confined to those who commonly come into close contact with horses. Similarly, prosthetic stent graft infection is a rare complication of endovascular aortic aneurysm repair. We describe the first reported case of aortic stent graft with S. equi occurring in a professional racehorse trainer. Clinical presentation, investigations, imaging and management of this case are described. In conclusion, clinicians should consider infection with rare organisms in patients with prosthetic implants who regularly ...
A massively parallel sequencing approach uncovers ancient origins and high genetic variability of endangered Przewalski’s horses.
Genome biology and evolution    July 29, 2011   Volume 3 1096-1106 doi: 10.1093/gbe/evr067
Goto H, Ryder OA, Fisher AR, Schultz B, Kosakovsky Pond SL, Nekrutenko A, Makova KD.The endangered Przewalski's horse is the closest relative of the domestic horse and is the only true wild horse species surviving today. The question of whether Przewalski's horse is the direct progenitor of domestic horse has been hotly debated. Studies of DNA diversity within Przewalski's horses have been sparse but are urgently needed to ensure their successful reintroduction to the wild. In an attempt to resolve the controversy surrounding the phylogenetic position and genetic diversity of Przewalski's horses, we used massively parallel sequencing technology to decipher the complete mitoch...
Processing stored stallion semen doses by Single Layer Centrifugation.
Theriogenology    July 28, 2011   Volume 76, Issue 8 1424-1432 doi: 10.1016/j.theriogenology.2011.06.011
Morrell JM, Garcia BM, Pena FJ, Johannisson A.The purpose of this study was to determine if the quality of stored stallion semen doses could be enhanced by the scaled-up version of Single Layer Centrifugation using Androcoll-E-Large. Three semen doses from each of fifteen stallions were transported overnight to the Swedish University of Agricultural Sciences (SLU) for processing 24 h after semen collection. Sperm quality in the resulting SLC-selected samples was significantly improved compared to the uncentrifuged samples: mean progressive motility was increased by 8% on the day of processing (P < 0.001) and by 13% after 24 h cold storage...
The effect of growth hormone (GH) and insulin-like growth factor-I (IGF-I) on in vitro maturation of equine oocytes.
Zygote (Cambridge, England)    July 28, 2011   Volume 20, Issue 4 353-360 doi: 10.1017/S0967199411000335
Pereira GR, Lorenzo PL, Carneiro GF, Ball BA, Gonçalves PB, Pegoraro LM, Bilodeau-Goeseels S, Kastelic JP, Casey PJ, Liu IK.The objective of this study was to test the hypothesis that equine growth hormone (eGH), in combination with insulin growth factor-I (IGF-I), influences positively in vitro nuclear and cytoplasmic maturation of equine oocytes. Cumulus-oocyte complexes were recovered from follicles that were < 25 mm in diameter, characterized by morphology and were allocated randomly as follow: (a) control (no additives); (b) 400 ng/ml eGH; (c) 200 ng/ml IGF-I; (d) eGH + IGF-I; and (e) eGH + IGF-I + 400 ng/ml anti-IGF-I antibody. Oocytes were matured for 30 h at 38.5°C in air with 5% CO2 and then stained wi...
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.
Molecular genetics and metabolism    July 27, 2011   Volume 104, Issue 3 273-278 doi: 10.1016/j.ymgme.2011.07.022
Westermann CM, Dorland L, van Diggelen OP, Schoonderwoerd K, Bierau J, Waterham HR, van der Kolk JH.Earlier research on ten horses suffering from the frequently fatal disorder atypical myopathy showed that MADD (multiple acyl-CoA dehydrogenase deficiency) is the biochemical derangement behind atypical myopathy. From five horses that died as a result of this disease and seven healthy control horses, urine and plasma were collected ante mortem and muscle biopsies were obtained immediately post-mortem (2 patients and 7 control horses), to analyse creatine, purine and carbohydrate metabolism as well as oxidative phosphorylation. In patients, the mean creatine concentration in urine was increased...