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Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the MYH1 (E321G) mutation
BACKGROUND: The prevalence of clinical signs and factors triggering muscle atrophy and rhabdomyolysis associated with an MYH1 (E321G) mutation in Quarter Horses and related breeds (QH) remain poorly understood. HYPOTHESIS/OBJECTIVES: Determine the prevalence and potential triggers of atrophy and sti...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9151494/ https://www.ncbi.nlm.nih.gov/pubmed/35426178 http://dx.doi.org/10.1111/jvim.16417 |
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author | Valberg, Stephanie J. Schultz, Abigail E. Finno, Carrie J. Bellone, Rebecca R. Hughes, Shayne S. |
author_facet | Valberg, Stephanie J. Schultz, Abigail E. Finno, Carrie J. Bellone, Rebecca R. Hughes, Shayne S. |
author_sort | Valberg, Stephanie J. |
collection | PubMed |
description | BACKGROUND: The prevalence of clinical signs and factors triggering muscle atrophy and rhabdomyolysis associated with an MYH1 (E321G) mutation in Quarter Horses and related breeds (QH) remain poorly understood. HYPOTHESIS/OBJECTIVES: Determine the prevalence and potential triggers of atrophy and stiffness in horses homozygous reference (N/N), heterozygous (My/N), and homozygous (My/My) for the MYH1 (E321G) mutation. ANIMALS: Two‐hundred seventy‐five N/N, 100 My/N, and 10 My/My QH. METHODS: A retrospective case‐control study using a closed‐ended questionnaire completed by clients of the Veterinary Genetics Laboratory at the University of California, Davis. History of clinical signs, disease, vaccination and performance were analyzed by genotype using contingency testing. RESULTS: Atrophy occurred in proportionately more horses with MYH1 (E321G) (My) than N/N QH and more frequently in My/My than My/N QH (P < .001; My/My 8/10 [80%], My/N 17/100 [17%], N/N 29/275 [11%]). More My/My horses had rapid atrophy (P < .001), with recurrence in 50%. Fewer My/My horses recovered versus My/N QH (P < .001). Stiffness was common across genotypes (P = .100; My/My 4/10 [40%], My/N 18/100 [18%], N/N 48/275 [17%]). Three months before the observed atrophy and stiffness, 47% of MYH1 (E321G) QH were vaccinated or had respiratory or gastrointestinal disease. Horses achieving 100% expected performance did not differ across genotypes (50% My/My, 71% My/N, 55% N/N), but, only 4/10 My/My QH were competing. My/N horses achieved national or world championships or both. CONCLUSION AND CLINICAL IMPORTANCE: Approximately 20% of My/N QH develop rapid atrophy. Atrophy is more common (80%) in homozygous My/My QH and less likely to resolve. Inciting causes such as vaccination and infection are inapparent in over half of cases. |
format | Online Article Text |
id | pubmed-9151494 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-91514942022-06-04 Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the MYH1 (E321G) mutation Valberg, Stephanie J. Schultz, Abigail E. Finno, Carrie J. Bellone, Rebecca R. Hughes, Shayne S. J Vet Intern Med EQUINE BACKGROUND: The prevalence of clinical signs and factors triggering muscle atrophy and rhabdomyolysis associated with an MYH1 (E321G) mutation in Quarter Horses and related breeds (QH) remain poorly understood. HYPOTHESIS/OBJECTIVES: Determine the prevalence and potential triggers of atrophy and stiffness in horses homozygous reference (N/N), heterozygous (My/N), and homozygous (My/My) for the MYH1 (E321G) mutation. ANIMALS: Two‐hundred seventy‐five N/N, 100 My/N, and 10 My/My QH. METHODS: A retrospective case‐control study using a closed‐ended questionnaire completed by clients of the Veterinary Genetics Laboratory at the University of California, Davis. History of clinical signs, disease, vaccination and performance were analyzed by genotype using contingency testing. RESULTS: Atrophy occurred in proportionately more horses with MYH1 (E321G) (My) than N/N QH and more frequently in My/My than My/N QH (P < .001; My/My 8/10 [80%], My/N 17/100 [17%], N/N 29/275 [11%]). More My/My horses had rapid atrophy (P < .001), with recurrence in 50%. Fewer My/My horses recovered versus My/N QH (P < .001). Stiffness was common across genotypes (P = .100; My/My 4/10 [40%], My/N 18/100 [18%], N/N 48/275 [17%]). Three months before the observed atrophy and stiffness, 47% of MYH1 (E321G) QH were vaccinated or had respiratory or gastrointestinal disease. Horses achieving 100% expected performance did not differ across genotypes (50% My/My, 71% My/N, 55% N/N), but, only 4/10 My/My QH were competing. My/N horses achieved national or world championships or both. CONCLUSION AND CLINICAL IMPORTANCE: Approximately 20% of My/N QH develop rapid atrophy. Atrophy is more common (80%) in homozygous My/My QH and less likely to resolve. Inciting causes such as vaccination and infection are inapparent in over half of cases. John Wiley & Sons, Inc. 2022-04-14 2022 /pmc/articles/PMC9151494/ /pubmed/35426178 http://dx.doi.org/10.1111/jvim.16417 Text en © 2022 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | EQUINE Valberg, Stephanie J. Schultz, Abigail E. Finno, Carrie J. Bellone, Rebecca R. Hughes, Shayne S. Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the MYH1 (E321G) mutation |
title | Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the
MYH1
(E321G)
mutation |
title_full | Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the
MYH1
(E321G)
mutation |
title_fullStr | Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the
MYH1
(E321G)
mutation |
title_full_unstemmed | Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the
MYH1
(E321G)
mutation |
title_short | Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the
MYH1
(E321G)
mutation |
title_sort | prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in quarter horse‐related breeds with the
myh1
(e321g)
mutation |
topic | EQUINE |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9151494/ https://www.ncbi.nlm.nih.gov/pubmed/35426178 http://dx.doi.org/10.1111/jvim.16417 |
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