Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory

Aleman, Monica R; Scalco, Rebeca; Malvick, Julia; Grahn, Robert A.; True, Alexander; Bellone, Rebecca

doi:10.1016/j.jevs.2022.104129

Cited by 8 publications

(10 citation statements)

References 30 publications

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“…The Quarter Horse MAF of 7.1% is higher than a previous report of 146 Quarter Horses (MAF 3.4%) 27 . The variant has only been reported in Quarter Horses and related breeds 27 , 52 , however, here we also identified a single copy of the variant in two Belgian horses, a Welsh Pony, and a Tennessee Walking Horse. Manual visualization of these variants showed them to be present in 2/7 reads for two horses, 2/6 and 2/12 reads.…”

Section: Discussionmentioning

confidence: 44%

“…Whether the higher-than-expected variant frequency in the Western Pleasure horse subpopulation is due to subpopulation-specific genetic drift, selection or hitch-hiking, or popular sire effect is unknown. Interestingly, in the 605 horses of 48 different breeds, the variant is only found in Quarter Horses, and at a frequency of 2.8%, which is slightly lower than reports in other studies (5–8.3%) 19 , 51 , 52 , This may reflect the subpopulation type of Quarter Horses that are present in the study cohort, as the variant frequency of GBED varies markedly based on the discipline that the Quarter Horse is bred for 51 , or non-random sampling resulting in bias in the study cohort. Conversely, this could also reflect the success of breeding programs to reduce the frequency of GBED since the variant was first reported almost 20 years ago 8 .…”

Section: Discussionmentioning

confidence: 54%

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Predicted genetic burden and frequency of phenotype-associated variants in the horse

Durward-Akhurst,

Marlowe,

Schaefer

et al. 2024

Sci Rep

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Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted deleterious variants that healthy individuals carry (predicted genetic burden). Estimation of the predicted genetic burden and baseline frequencies of known deleterious or phenotype associated variants within and across the major horse breeds have not been performed. We used WGS of 605 horses across 48 breeds to identify 32,818,945 variants, demonstrate a high predicted genetic burden (median 730 variants/horse, interquartile range: 613–829), show breed differences in predicted genetic burden across 12 target breeds, and estimate the high frequencies of some previously reported disease variants. This large-scale variant catalog for a major and highly athletic domestic animal species will enhance its ability to serve as a model for human phenotypes and improves our ability to discover the bases for important equine phenotypes.

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Section: Discussionmentioning

confidence: 44%

Section: Discussionmentioning

confidence: 54%

Predicted genetic burden and frequency of phenotype-associated variants in the horse

Durward-Akhurst,

Marlowe,

Schaefer

et al. 2024

Sci Rep

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“…It has been proved in the case of muscles that a reprogramming of gene transcription is associated with remodeling of the contractile properties of the fibers (slow, fast fibers) and a remodeling of the metabolic profile of the muscle (Aleman et al 2022;Baumert et al 2018).…”

Section: Discussionmentioning

confidence: 99%

Anatomical variations of the flexor carpi ulnaris in the fetal period

Siwek

Krupa

Mrożek

et al. 2023

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Introduction: The Flexor Carpi Ulnaris (FCU) is a part of the palmar the forearm muscle group and one of the most important muscles for upper limb functioning - is responsible for flexion and adduction of the hand at the radio-carpal joint. There are clinically significant but rare anatomical variations of FCU. The variability of the FCU has not been described up to now, and no typology of the muscle based on its more variable terminal attachment has been created. Aim of the study: Determination of FCU muscle typology based on available fetal material. Material and methods: A total of 114 human fetuses (53 female, 61 male) between 117 and 197 days of fetal life were eligible for the study. Preparations were carried out using classical anatomical techniques based on a previously published procedure. Thanks to that significant anthropometric landmarks were visible for the gathering of metric measurements. Metric measurements were taken and statistically analysed using R-Project software. Results: A new typology was created based on variable muscle insertions. Additionally, the presence of an atypically located, additional, separated muscle belly was described. A comparison of measurements of the left upper limb in relation to the right upper limb showed significant differences for forearm length to the anthropometric point of the stylion radiale, limb length, total FCU length and FCU length which means that the left limb is longer than the right limb. A comparison of FCU insertion types between left and right upper limb showed there’s no significant difference between counts of each type. Conclusion: The FCU is a muscle that is easy to palpate and may therefore act as a topographical marker for healthcare professionals. Knowledge of its variability is not only of theoretical importance but also has clinical significance. The current publication demonstrates presence of variability in FCU terminal attachment. Certainly, this topic requires further research and continued work on a detailed understanding of forearm anatomy in the fetal period.

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“…Equids were grouped under 1 of 2 groups: (1) No neurologic or muscle disease (no‐NM), and (2) Neurologic or muscle disease (NM) if any of these, or a combination of neurologic and muscle disease was identified. Genotype information was retrieved from the Neuromuscular Disease Laboratory (NDL) at UCD if available to investigate the presence of genetic variants known to cause muscle disease 23 . These included hyperkalemic periodic paralysis (HYPP), malignant hyperthermia (MH), polysaccharide storage myopathy type 1 (PSSM1), glycogen branching enzyme deficiency (GBED), myosin‐heavy chain myopathy (MYHM), and myotonia congenita (MC).…”

Section: Methodsmentioning

confidence: 99%

“…Currently, there are only 2 case studies reporting large numbers of EGA cases (49 and 54 cases) in the literature 1,21 . Atypical presentations of EGA occur, as evidenced by sporadic case reports that include horses with rhabdomyolysis, respiratory distress, cavitary effusion, disseminated intravascular coagulation (DIC), recumbency associated with neurologic disease, and death 22‐27 . Furthermore, specific detailed descriptions and frequency of neurologic and muscle disease associated with anaplasmosis in equids are scarce in the literature 1,21‐24,28‐30 .…”

Section: Introductionmentioning

confidence: 99%

Common and atypical presentations of Anaplasma phagocytophilum infection in equids with emphasis on neurologic and muscle disease

Aleman,

Vedavally,

Pusterla

et al. 2023

Veterinary Internal Medicne

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BackgroundComprehensive descriptions of equids with granulocytic anaplasmosis (EGA) with neurologic or muscle disease and other atypical presentations are scarce in the literature.ObjectiveDescribe the clinical signs, laboratory findings, treatment, and outcome of equids with EGA with emphasis on neurologic and muscle disease.AnimalsThirty‐eight horses, 1 donkey.MethodsRetrospective study. Equids with EGA were included. The electronic data base was searched from January 2000 to December 2022 using the words anaplasmosis, ehrlichiosis, granulocytic, and rickettsia. Signalment and clinical data were reviewed. Data were evaluated for normality using Shapiro‐Wilk test. Parametric and nonparametric statistics were used for normally and non‐normally distributed data.ResultsCommon (41%) and other (59%) presentations were seen in horses ≥ 4 years of age (median, 14 years) with an overrepresentation of males (77%). Neurologic disease was common (41%), mainly presenting as diffuse symmetrical proprioceptive ataxia. Brain disease was less common manifesting as obtundation and cranial nerve deficits. Muscle disease was less common, with QH breeds with the variant causing myosin heavy chain myopathy (MYHM) having severe disease. Cavitary effusion, cardiomyopathy and disseminated intravascular coagulation (DIC) were uncommon. Clinical laboratory results varied depending on disease stage. Muscle enzyme activities were significantly higher in horses with muscle disease. Outcome was favorable with prompt tetracycline treatment. Death and long‐term sequelae were not reported.Conclusions and Clinical ImportanceCommon and atypical presentations of EGA have a favorable outcome with prompt tetracycline treatment. Quarter horse breeds with muscle disease should be genotyped for MYHM.

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Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory

Cited by 8 publications

References 30 publications

Predicted genetic burden and frequency of phenotype-associated variants in the horse

Predicted genetic burden and frequency of phenotype-associated variants in the horse

Anatomical variations of the flexor carpi ulnaris in the fetal period

Common and atypical presentations of Anaplasma phagocytophilum infection in equids with emphasis on neurologic and muscle disease

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