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Gross muscle hypertrophy in whippet dogs is caused by a mutation in the myostatin gene

2007; Elsevier BV; Volume: 17; Issue: 9-10 Linguagem: Inglês

10.1016/j.nmd.2007.06.008

1873-2364

G. Diane Shelton, Eva Engvall,

Cardiomyopathy and Myosin Studies

The picture shows a 3-year-old female spayed Whippet with extraordinary muscle mass (left). For comparison, a more typical whippet with normal muscle mass is shown (right). The muscle-bound dog was evaluated by a veterinarian for intermittent cramping episodes and stiffness. The owner obtained the dog from the breeder at 8 weeks of age, and the gross muscle hypertrophy was already evident. This dog shows a phenotype that is consistent with that resulting from a mutation in the myostatin gene, as reported by Dr. Elaine Ostrander at the NIH and her collaborators [ [1] Mosher D.S. Quignon P. Bustamante C.D. Sutter N.B. Mellersh C.S. Parker H.G. et al. A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS (Public Library of Science) Genetics. 2007; https://doi.org/10.1371/journal.pgen.oo30079.eor Crossref Google Scholar ]. A similar phenotype was originally reported in cattle with a myostatin mutation in 1997 [ [2] Kambadur R. Sharma M. Smith T. Bass J. Mutations in myostatin (GDF8) in double-muscled Belgian blue and Piedmontese cattle. Genome Res. 1997; 7: 910-916 Crossref PubMed Scopus (222) Google Scholar ].