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NEUROLOGY 1990;40:1854
© 1990 American Academy of Neurology

Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture

R. M. Sklar, PhD, A. H. Beggs, PhD, A. A. Lev, PhD, L. Specht, MD, PhD, F. Shapiro, MD and R. H. Brown, Jr., MD, DPhil

Cecil B. Day Neuromuscular Research Laboratories (Drs. Sklar, Lev, and Brown), Massachusetts General Hospital, Charlestown, MA; and the Departments of Genetics (Dr. Beggs), Neurology (Dr. Specht), and Orthopedic Surgery (Dr. Shapiro), Children's Hospital Medical Center, Boston, MA.

We examined normal and dystrophic human myotubes in cell culture for expression of dystrophin, the protein product of the Duchenne muscular dystrophy locus. Dystrophin levels in developing myotubes detected by Western blotting increased after 24 hours and reached maximum levels after 10 days in fusion medium. We did not detect dystrophin in myotubes cultured from Duchenne myoblasts (7 cases). Myotubes from a Becker muscular dystrophy patient's biopsy produced a lower molecular weight (approximately 408 kd) dystrophin, which was the same size in a whole muscle preparation from the same biopsy. This 408-kd dystrophin was the expected size for this Becker patient whose DNA was deleted for exons 45-48 of the Duchenne gene. This cell culture system will allow a detailed analysis of the effects of potential pharmacologic agents on steady-state dystrophin levels.

Address correspondence and reprint requests to Dr. Robert Sklar, Cecil B. Day Neuromuscular Research Laboratories, Building 149, 13th Street, The Navy Yard, Charlestown, MA 02129.

R.S. and R.H.B. are supported by the Cecil B. Day Investment Company; R.H.B. also receives support from NIH grant RO1 NS 00787-05 and the Muscular Dystrophy Association. A.L. is supported by the Pierre L. de Bourgknecht ALS Research Foundation. L.S. is supported by NIH grant 5-KO8-NS01254. A.H.B. is an associate of the Howard Hughes Medical Institute.

Received March 9, 1990. Accepted for publication in final form May 7, 1990.




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S. Sancho, T. Mongini, K. Tanji, S. J. Tapscott, W. F. Walker, H. Weintraub, A. D. Miller, and A. F. Miranda
Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts -- A New Method for Diagnosing Duchenne's Muscular Dystrophy
N. Engl. J. Med., September 23, 1993; 329(13): 915 - 920.
[Abstract] [Full Text]


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