A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20

Skeletal Muscle
Sara Mata LópezPeter P Nghiem

Abstract

Boys with Duchenne muscular dystrophy (DMD) have DMD gene mutations, with associated loss of the dystrophin protein and progressive muscle degeneration and weakness. Corticosteroids and palliative support are currently the best treatment options. The long-term benefits of recently approved compounds such as eteplirsen and ataluren remain to be seen. Dogs with naturally occurring dystrophinopathies show progressive disease akin to that of DMD. Accordingly, canine DMD models are useful for studies of pathogenesis and preclinical therapy development. A dystrophin-deficient, male border collie dog was evaluated at the age of 5 months for progressive muscle weakness and dysphagia. Dramatically increased serum creatine kinase levels (41,520 U/L; normal range 59-895 U/L) were seen on a biochemistry panel. Histopathologic changes characteristic of dystrophinopathy were seen. Dystrophin was absent in the skeletal muscle on immunofluorescence microscopy and western blot. Whole genome sequencing, polymerase chain reaction, and Sanger sequencing revealed a frameshift, single nucleotide deletion in canine DMD exon 20, position 27,626,466 (c.2841delT mRNA), resulting in a stop codon six nucleotides downstream. Semen was archived for future l...Continue Reading

References

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Citations

Oct 30, 2018·Nucleic Acids Research·Bixia TangWenming Zhao
Jul 11, 2019·Journal of Muscle Research and Cell Motility·Dominic J Wells
Aug 28, 2019·Journal of Neuromuscular Diseases·Inès BarthélémyLaurent Tiret
Feb 1, 2020·Expert Opinion on Drug Discovery·Nalinda B WasalaDongsheng Duan
Jan 8, 2021·Skeletal Muscle·James R MickelsonG Diane Shelton
Mar 24, 2021·Journal of Veterinary Internal Medicine·Barry A HedgespethKathryn M Meurs

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Methods Mentioned

BETA
biopsies
light microscopy
PCR
electrophoresis
exome sequencing

Software Mentioned

Genome Workbench
Ensembl

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