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Home / Equine Research Bank / Skelet Muscle / A missense mutation in MYH1 is associated with susceptibilit...
Skeletal muscle2018; 8(1); 7; doi: 10.1186/s13395-018-0155-0

A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses.

Abstract: The cause of immune-mediated myositis (IMM), characterized by recurrent, rapid-onset muscle atrophy in Quarter Horses (QH), is unknown. The histopathologic hallmark of IMM is lymphocytic infiltration of myofibers. The purpose of this study was to identify putative functional variants associated with equine IMM. A genome-wide association (GWA) study was performed on 36 IMM QHs and 54 breed matched unaffected QHs from the same environment using the Equine SNP50 and SNP70 genotyping arrays. A mixed model analysis identified nine SNPs within a ~ 2.87 Mb region on chr11 that were significantly (P < 1.4 × 10) associated with the IMM phenotype. Associated haplotypes within this region encompassed 38 annotated genes, including four myosin genes (MYH1, MYH2, MYH3, and MYH13). Whole genome sequencing of four IMM and four unaffected QHs identified a single segregating nonsynonymous E321G mutation in MYH1 encoding myosin heavy chain 2X. Genotyping of additional 35 IMM and 22 unaffected QHs confirmed an association (P = 2.9 × 10), and the putative mutation was absent in 175 horses from 21 non-QH breeds. Lymphocytic infiltrates occurred in type 2X myofibers and the proportion of 2X fibers was decreased in the presence of inflammation. Protein modeling and contact/stability analysis identified 14 residues affected by the mutation which significantly decreased stability. We conclude that a mutation in MYH1 is highly associated with susceptibility to the IMM phenotype in QH-related breeds. This is the first report of a mutation in MYH1 and the first link between a skeletal muscle myosin mutation and autoimmune disease.
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Publication Date: 2018-03-06 PubMed ID: 29510741PubMed Central: PMC5838957DOI: 10.1186/s13395-018-0155-0Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This study analyzes the genetic cause of immune-mediated myositis (IMM), a muscular disease in Quarter Horses, and identifies a mutation in a specific gene (MYH1) that is highly associated with this disease.

Research Objectives

  • The primary aim of the research was to identify any possible functional genetic variations associated with immune-mediated myositis (IMM), a muscle disease that causes rapid-onset muscle atrophy in Quarter Horses (QH).
  • Within this broader aim, it was also the intent of the researchers to carry out a genome-wide association study on affected and unaffected QH horses.

Research Methodology

  • The team analyzed the genomes of 36 IMM affected Quarter Horses and 54 unaffected ones from the identical environment using the Equine SNP50 and SNP70 genotyping arrays in a Genome Wide Association (GWA) study.
  • They utilized a mixed model analysis to find single nucleotide polymorphisms (SNPs)—variations at a single position in a DNA sequence—within a specific region on chromosome 11 that were notably linked with the IMM condition.
  • The team then further analyzed the data, concentrating on the haplotypes (combinations of genes) within this region which encompassed 38 annotated genes.
  • They singled out four myosin genes, MYH1, MYH2, MYH3, and MYH13, through whole-genome sequencing of four IMM-affected and four unaffected Quarter Horses.
  • Finally, protein modeling and contact/stability analysis was conducted to identify the roles of the mutated residues.

Findings and Conclusions

  • One nonsynonymous mutation, E321G, was found to be segregating in the MYH1 gene, which encodes the myosin heavy chain 2X. This mutation was confirmed through further genotyping of additional horses.
  • A significant association was found between this mutation in the MYH1 gene and susceptibility to the IMM condition in Quarter Horses.
  • The researchers found that the mutation was absent in horses from non-QH breeds. This suggests a breed-specific genetic disposition towards the disease.
  • The study concluded that this is the first-ever report of a mutation in the MYH1 gene and also the first link drawn between a skeletal muscle myosin mutation and an autoimmune disease.

Cite This Article

APA
Finno CJ, Gianino G, Perumbakkam S, Williams ZJ, Bordbari MH, Gardner KL, Burns E, Peng S, Durward-Akhurst SA, Valberg SJ. (2018). A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses. Skelet Muscle, 8(1), 7. https://doi.org/10.1186/s13395-018-0155-0

Publication

Skeletal muscle
ISSN: 2044-5040
NlmUniqueID: 101561193
Country: England
Language: English
Volume: 8
Issue: 1
Pages: 7
PII: 7

Researcher Affiliations

Finno, Carrie J
  • Department of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA. cjfinno@ucdavis.edu.
Gianino, Giuliana
  • Department of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA.
Perumbakkam, Sudeep
  • Department of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, 48824, USA.
Williams, Zoë J
  • Department of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, 48824, USA.
Bordbari, Matthew H
  • Department of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA.
Gardner, Keri L
  • Department of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, 48824, USA.
Burns, Erin
  • Department of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA.
Peng, Sichong
  • Department of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA.
Durward-Akhurst, Sian A
  • Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St. Paul, MN, 55108, USA.
Valberg, Stephanie J
  • Department of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, 48824, USA.

MeSH Terms

  • Amino Acid Sequence / genetics
  • Animals
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / pathology
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Haplotypes
  • Horse Diseases / genetics
  • Horses
  • Male
  • Muscle Fibers, Skeletal / pathology
  • Mutation, Missense
  • Myosin Heavy Chains / genetics
  • Myositis / genetics
  • Myositis / pathology
  • Pedigree
  • Sequence Alignment

Grant Funding

  • L40 TR001136 / NCATS NIH HHS
  • L40 TR001136 / NIH HHS
  • K01OD015134 / NIH HHS
  • 20143842021796 / National Institute of Food and Agriculture
  • K01 OD015134 / NIH HHS

Conflict of Interest Statement

ETHICS APPROVAL: All blood samples were collected with approval from the Animal Care and Use Committee at the University of Minnesota and University of California, Davis. CONSENT FOR PUBLICATION: All data is publically available, and consent for use of all data is available. COMPETING INTERESTS: The authors declare that they have no competing interests. PUBLISHER’S NOTE: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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Citations

This article has been cited 10 times.
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