Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency
| Autor: | Bruce F. Smith, Scott D. Fitzgerald, Chady H. Hakim, Dongsheng Duan, Scott W. Korte, Jessica S. Fortin, N. Nora Yang, Gayle C. Johnson |
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| Rok vydání: | 2021 |
| Předmět: |
Duchenne muscular dystrophy
Heterozygote Pathology medicine.medical_specialty Veterinary medicine canine Adipose tissue Case Report Case Reports Compound heterozygosity dystrophin Muscular Dystrophies Sudden cardiac death Dogs Fatal Outcome SF600-1100 Genotype medicine Animals Dog Diseases X chromosome General Veterinary biology business.industry compound heterozygote medicine.disease Laryngeal Muscle biology.protein Female Dystrophin business |
| Zdroj: | Veterinary Medicine and Science Veterinary Medicine and Science, Vol 7, Iss 3, Pp 654-659 (2021) |
| ISSN: | 2053-1095 |
| DOI: | 10.1002/vms3.433 |
| Popis: | The University of Missouri (MU) has established a colony of dystrophin‐deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the understanding of the genetic and molecular basis of the variable phenotype; thus to facilitate discovery of an effective therapeutic strategy. Herein we report the phenotype and genotype of a normal‐appearing 10‐month‐old colony female that died suddenly. At necropsy examination, there were reduced skeletal and laryngeal muscle volume and mild dilatation of the oesophagus. Microscopic findings consisted of extensive degeneration and regeneration of the axial skeletal, tongue, oesophageal, and laryngeal muscles that were characterized by considerable central nucleation, individual fibre mineralization and interstitial fibrosis. The myocardial findings were limited to infiltration of adipose cells in the interstitium. The female dog was a compound heterozygote with one X chromosome carrying a point mutation in intron 6 of the dystrophin gene and the other X chromosome carrying a repetitive element insertion in intron 13 of the dystrophin gene. Although the direct cause of death was uncertain, it might likely be due to sudden cardiac death as has been seen in Duchenne muscular dystrophy patients. This case demonstrated dystrophinopathy in female dogs that have no ameliorating normal X chromosome. A 10‐month‐old mixed breed female dog in a muscular dystrophy research colony at the University of Missouri died suddenly without premonitory symptoms. At necropsy examination, there were reduced skeletal and laryngeal muscle volume and mild dilatation of the esophagus. Microscopic findings consisted of extensive degeneration and regeneration of the axial skeletal, tongue, esophageal, and laryngeal muscles that were characterized by considerable central nucleation, individual fiber mineralization and interstitial fibrosis. |
| Databáze: | OpenAIRE |
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