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1.
OBJECTIVE: To determine whether increased sensitivity to pharmacologic agents was a general property of equine exertional myopathies, including polysaccharide storage myopathy (PSSM) in Quarter Horses. ANIMALS: 5 adult Quarter Horses with exertional rhabdomyolysis and abnormal polysaccharide accumulation in skeletal muscle and 4 clinically normal adult Quarter or Quarter-type horses. PROCEDURES: Twitch time course measurements and contracture responses to various concentrations of caffeine and halothane for small bundles of intact external intercostal muscle fibers were measured in all horses. RESULTS: Caffeine contracture threshold of muscles from Quarter Horses with PSSM was not different from that of clinically normal horses (5 mM in both groups). Muscles from horses with PSSM and from clinically normal horses did not have contracture in response to up to 2% halothane. CONCLUSIONS AND CLINICAL RELEVANCE: Results were in contrast to the increased sensitivity to caffeine and halothane for muscles from Thoroughbreds with recurrent exertional rhabdomyolysis (RER). Although clinical signs of muscular stiffness after exercise are similar between Quarter Horses with PSSM and Thoroughbreds with RER, these breeds appear to have 2 distinct myopathies with different pathophysiologic bases. Unlike RER in Thoroughbreds, PSSM in Quarter Horses does not appear to be accompanied by a defect in regulation of muscle contraction.  相似文献   

2.
OBJECTIVE: To characterize onset and clinical signs of polysaccharide storage myopathy (PSSM) in a well-defined population of affected Quarter Horses, identify risk factors for PSSM, determine compliance of owners to dietary and exercise recommendations, and evaluate the efficacy of dietary and exercise recommendations. ANIMALS: 40 Quarter Horses with PSSM and 37 unaffected control horses. PROCEDURES: Owners of horses with PSSM completed a retrospective questionnaire concerning their horse's condition. RESULTS: Between horses with PSSM and control horses, no significant differences were found in sex distribution (21 vs 15 females and 16 vs 22 males, respectively), temperament, muscle build, diet, or amount of turnout. In horses with PSSM, signs of muscle stiffness, muscle fasciculations, sweating, exercise intolerance, weakness, muscle wasting, reluctance to move, colic, abnormal gait, recumbency, lameness, and swollen muscles began between the age of 1 day and 14 years (mean age, 4.9 +/- 3.5 years). Five horses with PSSM developed acute muscle atrophy. Sixty-three percent (25/40) of owners fed the recommended diet, 55% (22/40) provided regular exercise, and 40% (16/40) followed both dietary and exercise recommendations. Owners of affected horses for which a decrease in severity or frequency of PSSM was not found did not follow the exercise, dietary, or both recommendations. All horses for which both dietary and exercise recommendations were followed had improvement in signs of PSSM. CONCLUSIONS AND CLINICAL RELEVANCE: n addition to exertional rhabdomyolysis, signs of PSSM include acute muscle atrophy and gait abnormalities. It appears that PSSM can be managed by following dietary recommendations combined with gradual increases in daily exercise.  相似文献   

3.
Background: Anesthetic‐induced malignant hyperthermia (MH) has been documented in Quarter Horses with a single point mutation in the ryanodine receptor 1 gene (RyR1) at nucleotide C7360G, generating a R2454G amino acid substitution. However, there have been no reports of nonanesthetic manifestations of MH in horses with the C7360G mutation. Objective: To describe clinical manifestations of Quarter Horses with the C7360G mutation. Animals: Eleven Quarter Horses with the RyR1 C7360G mutation. Methods: This prospective study included horses with suspected MH, undetermined etiology of sudden death, death within hours of onset of rhabdomyolysis, muscle rigidity, stiffness, intermittent sweating, and persistent increases in serum muscle enzyme activities. Whole blood in EDTA and skeletal muscle were processed for genetic and histochemical analysis. Medical records and pedigrees were collected when available. Results: Both anesthetic‐ and non–anesthetic‐associated myopathic manifestations of MH occurred in halter Quarter Horses with mutation of RyR1. The disease is inherited as an autosomal dominant trait. Clinical and laboratory abnormalities were similar in both forms. Rhabdomyolysis was a common finding in both groups of horses. Skeletal muscle histochemical findings were nonspecific and compatible with a noninflammatory myopathic process. Conclusions and Clinical Importance: MH is a potentially fatal disease of Quarter Horses that could be triggered by halogenated anesthetics and other nonanesthetic factors that may include exercise, stress, breeding, illnesses, and concurrent myopathies.  相似文献   

4.
OBJECTIVE: To assess heritability and mode of inheritance for hereditary equine regional dermal asthenia (HERDA) in Quarter Horses. ANIMALS: 1,295 horses with Quarter Horse bloodlines, including 58 horses affected with HERDA. PROCEDURE: Horses were classified as affected or unaffected or as undetermined when data were insufficient to assess phenotype. Pedigree data were analyzed to determine the probable mode of inheritance. Heritability was estimated by use of Bayesian statistical methods. RESULTS: Heritability (mean+/-SD) of HERDA was estimated to be 0.38+/-0.13, with both sexes having an equal probability of being affected. Results for evaluation of the pedigrees were consistent with a single Mendelian autosomal recessive mode of inheritance. CONCLUSIONS AND CLINICAL RELEVANCE: HERDA in Quarter Horses is an inherited disease, and affected horses are more likely to produce affected offspring. An autosomal recessive mode of inheritance should be considered by people making breeding decisions involving Quarter Horses when a first-degree relative has been confirmed with HERDA or has produced affected offspring. In addition, breeders whose horses have produced affected offspring can reduce the likelihood of producing affected horses in the future by avoiding inbreeding.  相似文献   

5.
This case report describes two full sibling gelding American Quarter Horses that presented separately for evaluation of an external mass (Case 1) and signs of colic and epistaxis (Case 2). The horses had the same owner and resided on the same property for the majority of their lives. Both horses were definitively or presumptively diagnosed antemortem with haemangiosarcoma, and on necropsy, multicentric (Case 1) and primary renal (Case 2) haemangiosarcoma were confirmed. A unique finding on necropsy was extensive bilateral renal involvement. Due to the low incidence of haemangiosarcoma in horses, the unique organ involvement and common ancestry of these two horses, a genetic cause is suspected.  相似文献   

6.
OBJECTIVE: To determine the frequency and anatomic location of musculoskeletal injuries incurred by Quarter Horses during races and to compare data from injured horses and matched control horses. DESIGN: Matched case-control study. ANIMALS: 97 Quarter Horses that sustained a musculoskeletal injury during races and 291 horses from the same races that were not injured. PROCEDURE: Data examined included racing history, race-entrant characteristics, racing events determined by analysis of videotapes of races, and, when performed, results of prerace physical inspections. Data for injured horses were compared with data for control horses, using conditional logistic regression. RESULTS: Incidence of a catastrophic injury among Quarter Horses during races was approximately 0.8/1,000 race starts, whereas incidence of musculoskeletal injury during racing was approximately 2.2/1,000 race starts. Odds of musculoskeletal injury were approximately 8 times greater among horses assessed to be at increased risk of injury on the basis of results of prerace physical inspection than for horses not considered to be at increased risk of injury. Evidence was lacking that 2-year-old horses were at increased risk of injury or that sex influenced the risk of injury among Quarter Horses during races. CONCLUSIONS AND CLINICAL RELEVANCE: Incidence of racing injury among Quarter Horses appears to be lower than that observed among Thoroughbreds. Regulatory veterinarians can identify horses at increased risk of injury on the basis of prerace physical inspection, indicating that these inspections could be used to reduce the risk of injury during races.  相似文献   

7.
Four Quarter Horses (9 months to 7 years of age) with submandibular lymphadenopathy and firm muscles (palpation of which elicited signs of pain) were evaluated; in general, the horses had a stiff gait, and 3 horses became recumbent. Streptococcus equi was cultured from aspirates of lymph nodes or samples of purulent material collected from the auditory tube diverticula. Once the horses were recumbent, their condition deteriorated rapidly despite aggressive antimicrobial and antiinflammatory treatment, necessitating euthanasia within 24 to 48 hours. One horse did not become recumbent and recovered completely. Among the 4 horses, common clinicopathologic findings included neutrophilia, hyperfibrinogenemia, and high serum activities of creatine kinase and aspartate aminotransferase. Necropsies of the 3 euthanatized horses revealed large, pale areas most prominent in the semimembranosus, semitendinosus, sublumbar, and gluteal muscles that were characterized histologically by severe acute myonecrosis and macrophage infiltration of necrotic myofibers. Streptococcus equi was identified in sections of affected muscle by use of immunofluorescent stains for Lancefield group C carbohydrate and S. equi M protein. In the 4 horses of this report, acute severe rhabdomyolysis without clinical evidence of muscle atrophy or infarction was associated with S. equi infection; rhabdomyolysis was attributed to either an inflammatory cascade resembling streptococcal toxic shock or potentially direct toxic effects of S. equi within muscle tissue.  相似文献   

8.
Background: Anesthetic-induced malignant hyperthermia has been documented in Quarter Horses and is caused by a single-point mutation in the ryanodine receptor 1 gene at nucleotide C7360G generating a R2454G amino acid substitution. An accurate, faster molecular test that is less prone to contamination would facilitate screening for the mutation in horses intended for breeding, in those undergoing surgical procedures, and in those with clinical signs compatible with malignant hyperthermia.
Objective: To report a rapid and accurate method for the detection of the ryanodine receptor 1 C7360G mutation.
Animals: Eleven diseased, 10 healthy, and 225 randomly selected Quarter Horses.
Methods: This study included horses with the ryanodine receptor 1 C7360G mutation as detected by gene sequencing. Available genomic and complementary DNA extracted from whole blood, hair or skeletal muscle was used for genetic analysis. Real-time polymerase chain reaction (RT-PCR) melting curve analysis was performed by equine specific primers and 2 hybridization probes (sensor and anchor probes) that contain the site of the mutation. Results from this method were blinded and compared with nucleic acid sequencing for validation.
Results: A rapid genotyping assay with fluorescence resonance energy transfer probes and melting curve analysis was accurate (100% agreement, K = 1) for identification of affected horses. The prevalence of the mutation in a random population of Quarter Horses was 1.3%.
Conclusions and Clinical Importance: Malignant hyperthermia in Quarter Horses can be rapidly and accurately detected by RT-PCR melting curve genotyping with hybridization probes.  相似文献   

9.
Lameness is a highly prevalent condition in horses and is the principal cause of removal from athletic activity in this species. In evidence-based veterinary medicine studies to evaluate non-setoidal anti-inflammatory drug (NSAID) therapies, force plates are commonly used to objectively assess improvement of lameness. The objective of this study was to determine whether breed differences would influence force plate measurements in sound and lame riding horses. Force plate measurements of lame (n = 20) and sound (n = 18) Warmblood and lame (n = 15) and sound (n = 8) Quarter Horses were compared. Lameness was visually scored using the grade 0–5 American Association of Equine Practitioners (AAEP) lameness scale. Trotting sound Warmbloods loaded their frontlimbs with 118% body weight (BW) and their hindlimbs with 96% BW, whereas Quarter Horses only used 101% BW in the front and 92% BW in the hindlimbs (P < .05). Furthermore, it appeared and was estimated that, at trot, front-limb-lame Warmblood horses showed higher peak vertical force (PVF) values (grade 2: 89% BW; grade 3: 69% BW), than front-limb-lame Quarter Horses with similar lameness scores (grade 2: 78% BW; grade 3: 66% BW). In conclusion, peak vertical forces (PVF expressed in % BW) of either lame or sound horses seem to be influenced by breed differences between Warmblood and Quarter Horse riding horses. Possible conformation and gait differences enabled trotting Quarter Horses to demonstrate lower absolute PVF values than Warmbloods, whereas trotting lame Warmbloods showed a relatively larger decrease in frontlimb loading and thus in PVF than lame Quarter Horses at a trot. Thus, in studies in which objective lameness observations are recorded, breed differences should be taken into account when specific grades of lameness of a group of horses are to be objectively compared with another group.  相似文献   

10.
OBJECTIVE: To estimate the prevalence of polysaccharide storage myopathy (PSSM) among Quarter Horses in the United States and evaluate possible relationships between muscle glycogen concentration, turnout time, and exercise level. DESIGN: Cross-sectional study. ANIMALS: 164 overtly healthy Quarter Horses > 2 years old from 5 states. PROCEDURES: Horses with a history of exertional rhabdomyolysis or any other muscular disease were excluded. Muscle biopsy specimens were examined histologically for evidence of PSSM and were submitted for determination of muscle glycogen concentration. A diagnosis of PSSM was made if amylase-resistant inclusions that stained with periodic acid-Schiff stain were detected. RESULTS: Prevalences of PSSM on the 2 farms with a history of PSSM were 20% (1/5) and 40.7% (11/27); mean prevalence for the other 4 farms was 6.1% (8/132). Sex was not significantly associated with a diagnosis of PSSM, and age was not significantly different between horses with and without PSSM. Total histologic score, serum creatine kinase activity, and muscle glycogen concentration were significantly higher in horses with PSSM than in horses without. CONCLUSIONS AND CLINICAL RELEVANCE: Results suggested that the prevalence of PSSM among overtly healthy Quarter Horses in the United States is likely to be between 6% and 12%.  相似文献   

11.
OBJECTIVE: To determine effects of dexamethasone on insulin sensitivity, serum creatine kinase (CK) activity 4 hours after exercise, and muscle glycogen concentration in Quarter Horses with polysaccharide storage myopathy (PSSM). ANIMALS: 4 adult Quarter Horses with PSSM. PROCEDURE: A 2 x 2 crossover design was used with dexamethasone (0.08 mg/kg) or saline (0.9% NaCl) solution administered IV every 48 hours. Horses were exercised on a treadmill daily for 3 wk/treatment with a 2-week washout period between treatments. Serum CK activity was measured daily 4 hours after exercise. At the end of each treatment period, serum cortisol concentrations were measured, a hyperinsulinemic euglycemic clamp (HEC) technique was performed, and muscle glycogen content was determined. RESULTS: Mean +/- SEM serum cortisol concentration was significantly lower after 48 hours for the dexamethasone treatment (0.38 +/- 0.08 mg/dL), compared with the saline treatment (4.15 +/- 0.40 mg/dL). Dexamethasone significantly decreased the rate of glucose infusion necessary to maintain euglycemia during the HEC technique, compared with the saline treatment. Muscle glycogen concentrations and mean CK activity after exercise were not altered by dexamethasone treatment, compared with the saline treatment. CONCLUSIONS AND CLINICAL RELEVANCE: Dexamethasone significantly reduced whole-body insulin-stimulated glucose uptake in Quarter Horses with PSSM after a 3-week period but did not diminish serum CK response to exercise or muscle glycogen concentrations in these 4 horses. Therefore, a decrease in glucose uptake for 3 weeks did not appear to alleviate exertional rhabdomyolysis in these horses. It is possible that long-term treatment may yield other results.  相似文献   

12.
OBJECTIVE: To determine clinical features of horses with a slab fracture of the central or third tarsal bone and to report outcome of horses in which treatment did not include surgery. DESIGN: Retrospective study. ANIMALS: 25 horses (14 Standardbreds, 6 Thoroughbreds, 5 Quarter Horses). PROCEDURE: Medical records of horses with a slab fracture of the central (n = 9) or third (16) tarsal bone were reviewed. Only horses for which treatment consisted of confinement to a stall were included in this study. Clinical features and radiographic findings were recorded and summarized. Outcome was determined for racing breeds by obtaining official lifetime race results. Outcome for Quarter Horses was determined by phone survey of the owners. RESULTS: 16 (64%) horses had a successful outcome. Ten of 14 (71%) Standardbreds and 2 of 6 Thoroughbreds returned to racing and started at least 5 races after injury. Four of 5 Quarter Horses for which follow-up information was available successfully returned to their previous activity. Sex, age, limb affected, or gait was not associated with final outcome. Percentage of racehorses with central tarsal bone fractures that had a successful outcome (2/7) was significantly less than percentage with third tarsal bone fractures that did (10/13). CONCLUSIONS AND CLINICAL RELEVANCE: Results suggest that enforced rest without surgical fixation can be an effective therapeutic option for horses with a slab fracture of the central or third tarsal bone, even if athletic function is expected.  相似文献   

13.
Reasons for performing study: There have been many studies that document radiographic findings in young Thoroughbred and Standardbred horses. No such studies have been performed in Quarter Horses. Objective: To describe the prevalence of radiographic changes in the stifles, tarsi, carpi and fetlocks of young Quarter Horses intended for cutting. Methods: Radiographs of yearling and 2‐year‐old Quarter Horses were obtained from a radiograph repository and a private farm. The carpi, tarsi, fetlocks and stifles were evaluated and radiographic changes categorised by type and location. The frequency of changes was calculated and comparisons were made between the 2 age groups. Results: Of 458 included horses, 408 (89.1%) had radiographic changes, most of which were in the tarsi (304, 69.4%) followed by the stifles (202, 44.5%), hind fetlocks (155 of 355, 43.7%), fore fetlocks (131 of 361, 36.3%) and carpi (27 of 342, 7.9%). Of the horses with stifle changes, 188 (93.1%) were in the medial femoral condyle (MFC). There was a significant difference between the age groups for changes on the distal intermediate ridge of the tibia (DIRT), hindlimb middle phalanx (P2) osteophytes and proximal tibial osteophytes. Conclusions: There is a high prevalence of radiographic changes in presale survey radiographs, especially in the stifles and tarsi, of young Quarter Horses intended for cutting. Potential relevance: Veterinarians examining presale radiographs at cutting horse sales should expect a high prevalence of radiographic changes in this population of horses. Work to determine the clinical relevance of these radiographic changes is currently ongoing.  相似文献   

14.
The accuracy of using radiographs to diagnose cervical facet osteoarthritis (CFA) in horses is undetermined. Further investigation is required to determine the clinical significance of radiographic evidence of CFA, the prevalence of radiographic changes in horses without clinical signs, and the long-term efficacy of intra-articular CFA treatment. The objectives of this study is to compare degenerative changes of the cervical facet joints of the cervical vertebrae on radiographs of horses with clinical signs of CFA with healthy cohort-matched horses, to compare clinical findings between groups, and to obtain follow-up information on the long-term outcome in treated horses. This is a retrospective case-control cohort-matched comparison study of horses treated for cervical facet disease versus horses with no clinical signs of cervical facet disease. Horses diagnosed with CFA and treated with intra-articular injection of corticosteroids were included. Follow-up information on recovery from treatment was obtained via telephone survey of owners/trainers. Healthy horses with no clinical signs of CFA were matched to treated horses by breed, sex, age, and sport as the control group. Two blinded radiologists reviewed cervical spine radiographs for each horse and recorded CFA score and intravertebral/intervertebral measurements. Clinical and radiographic parameters were compared between treatment and control groups. There was a significant difference in CFA grades for C5-6 and C6-7 between horses with presence of clinical signs and healthy horses. However, interobserver agreement between radiologists for grading CFA was moderate and only 56% of values were identical for both observers. Atrophy of the neck was present on clinical examination in most cases in the treatment group. Dressage horses were overrepresented. Overall, 64% of horses returned to their previous level of performance after treatment. Clinical examination data collected for the treatment group were retrospective and were obtained by different clinicians. Eight owners/trainers were not able to be reached for the survey. There was a significant difference in CFA grades for C5-6 and C6-7 between horses with presence of clinical signs and healthy horses. Despite these statistical differences, the clinical diagnosis of CFA based on radiographic grading alone is questionable because of the lack of agreement between the radiologists. To strengthen the diagnosis, clinical signs of facet disease, in particular atrophy of the neck muscles, need to be present to make this diagnosis. Intra-articular corticosteroid injection was effective at allowing most treated horses to return to athletic use..  相似文献   

15.
Corticosteroid preparation was administered to 7 Shetland Ponies and 10 Quarter Horses. Serum iron concentration increased dramatically for 48 to 72 hours after the steroid treatment, whereas serum iron-binding capacity and serum ferritin concentration did not. An increase in available iron may allow bacteria to proliferate when ponies or horses are stressed or treated inappropriately with corticosteroids.  相似文献   

16.
OBJECTIVE: To determine clinical history, structures involved, treatment, and outcome of lacerations of the heel bulb and proximal phalangeal region (pastern) in horses. DESIGN: Retrospective study. ANIMALS: 101 horses. PROCEDURES: Medical records of horses with lacerations of the heel bulb and pastern were reviewed, and follow-up information was obtained. RESULTS: 75 horses were Quarter Horses. Most horses were not treated with antimicrobial drugs prior to referral. Mean +/- SD time from injury to referral was 24 +/- 45 hours (range, 1 to 168 hours). Lacerations were most frequently caused by contact with wire or metal objects. In 17 horses, lacerations involved synovial structures; the distal interphalangeal joint was most commonly affected. One horse was euthanatized after initial examination. Wound treatment consisted of cleansing, lavage, debridement, lavage of affected synovial structures, suturing of fresh wounds, and application of a foot bandage or cast. Fifty-six horses were treated with systemically administered antimicrobial drugs. Follow-up information was collected for 61 horses. Fifty-one horses returned to their intended use and had no further complications; 10 horses had complications associated with the wound, and of those horses, 5 were euthanatized and 1 horse died from an unrelated cause. Horses with lacerations that involved synovial structures had worse outcomes than horses with lacerations that did not involve synovial structures. CONCLUSIONS AND CLINICAL RELEVANCE: Horses that sustain heel bulb lacerations can successfully return to their intended use. Involvement of the distal interphalangeal joint is associated with poor prognosis.  相似文献   

17.
REASONS FOR PERFORMING STUDY: Sacroiliac (SI) joint disease is difficult to diagnose definitively on clinical grounds. HYPOTHESES: Lameness not attributable to SI joint pain may result in asymmetrical uptake of radiopharmaceutical in the tubera sacrale and SI joints; and that horses with clinical signs suggestive of sacroiliac joint disease would have differences in the ratios of radiopharmaceutical uptake between the fifth lumbar vertebra (L5) and either the tubera sacrale or SI joints compared with normal horses. OBJECTIVES: To determine whether differences in radiopharmaceutical activity could identify individuals with presumed SI joint region pain. METHODS: The scintigraphic appearance of the pelvic region of 234 horses (Group I) with lameness unrelated to the SI joints was compared with that for 40 normal horses (Group N) in full work and that for 41 horses with suspected SI joint disease (Group II). The effect of age, sex, lame limb and discipline were assessed in Group I. Motion-corrected scintigraphic images were assessed grossly, using profile analysis and by comparing ratios of uptake of mean count per pixel between L5 and each of the left (L) tuber sacrale (TS), right (R) TS, LSI and RSI joints. Left-right symmetry was compared. RESULTS: Lame horses (Group I) had greater asymmetry of radiopharmaceutical uptake in the tubera sacrale compared with normal horses. Horses with right hindlimb lameness had a larger RSI/LSI ratio compared to normal horses. In Group I L5/LTS, L5/RTS and L5/RSI increased with age, and there was a trend for L5/LSI to increase with age. In horses with presumed sacroiliac joint disease (Group II), L5/LTS, L5/RTS and L5/RSI were all greater compared with normal horses. Detection of marked left-right asymmetry by quantitative analysis or profile analysis was helpful in discriminating between those horses with clinical signs compatible with SI joint disease and either normal horses or those lame due to another cause. CONCLUSIONS AND POTENTIAL RELEVANCE: Scintigraphic evaluation of the SI region is useful to identify SI joint disease in combination with other clinical signs supportive of the diagnosis. However, diagnosis should not be based on this alone because of some degree of overlap in the range of radiopharmaceutical uptake between horses with SI joint disease and both normal horses and those with other causes of lameness.  相似文献   

18.
Hereditary equine regional dermal asthenia (HERDA) results from a genetic mutation which affects the skin and other tissues of Quarter Horses and horses with Quarter Horse lineage. The disease HERDA has an autosomal recessive mode of inheritance and has become a significant concern in the Quarter Horse industry due to the high frequency of heterozygote carriers. Affected homozygous horses appear normal at birth; however, within the first 2 years of life they usually acquire loose, hyperextensible skin and wounds which result in disfiguring scars either spontaneously or from minor trauma. Some severely affected horses also develop haematomas and seromas. Consequently, most affected horses are subjected to euthanasia at an early age. No treatment options other than palliative therapy currently exist. As part of a five panel test ( http://www.aqha.com/News/News-Articles/2013/April/04292013-Genetic-Testing.aspx ) the American Quarter Horse Association presently requires DNA testing for HERDA on all breeding stallions. There are currently no restrictions on registration of horses heterozygous or homozygous for the HERDA mutation. Due to the autosomal recessive nature of the disease, Quarter Horse mares and horses of all breeds from HERDA‐associated bloodlines should also be tested.  相似文献   

19.
Hereditary equine regional dermal asthenia (HERDA) in Quarter Horses is an inherited degenerative skin disease. Initially reported as hyperelastosis cutis, HERDA has a phenotype of hyperextensible, fragile skin, with secondary seromas, haematomas, ulcers and scarring. It primarily affects the dorsal aspect of the body. An autosomal recessive mode of inheritance is considered likely, with affected horses more at risk to produce affected offspring. A mutation in cyclophilin B (PPIB) as a novel, causal candidate gene for HERDA has been described, and verified as segregating with carriers and affected horses. Screening of control Quarter Horses in the USA has indicated a 3.5% carrier frequency. The prevalence of this mutation among Quarter Horses in France was determined to be 1.6%.  相似文献   

20.
OBJECTIVE: To evaluate whether biochemical or genetic alterations in AMP-activated protein kinase (AMPK) play a role in the development of polysaccharide storage myopathy (PSSM) in Quarter Horses. ANIMALS: 30 PSSM-affected and 30 unaffected (control) Quarter Horses. PROCEDURES: By use of an established peptide phosphotransfer assay, basal and maximal AMPK activities were measured in muscle biopsy samples obtained from 6 PSSM-affected and 6 control horses. In 24 PSSM-affected and 24 control horses, microsatellite markers identified from the chromosomal locations of all 7 AMPK subunit genes were genotyped with a fluorescent DNA fragment analyzer. Alleles of 2 of the AMPK gamma subunit genes were genotyped via DNA sequencing. Allele frequencies of DNA markers in or near the AMPK subunit genes were measured in isolated genomic DNA. RESULTS: No differences in basal or maximal muscle AMPK enzyme activities between PSSM-affected and control horses were detected. There were also no differences in allele frequencies for microsatellite markers near any of the 7 AMPK subunit genes between the 2 groups. Furthermore, previously known and newly identified alleles of 2 equine AMPK gamma subunit genes were also not associated with PSSM. CONCLUSIONS AND CLINICAL RELEVANCE: These results have provided no evidence to indicate that AMPK plays a causative role in PSSM in American Quarter Horses.  相似文献   

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