Syngeneic myoblast transplantation improves muscle function in a murine model of X-linked myotubular myopathy

Hyun Ju Lim, Sunyoung Joo, Seh Hoon Oh, John D. Jackson, Delrae M. Eckman, Tiffaney M. Bledsoe, Christopher R. Pierson, Martin K. Childers, Anthony Atala, James J. Yoo

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


X-linked myotubular myopathy (XLMTM) is an isogenic muscle disease characterized by progressive wasting of skeletal muscle, weakness, and premature death of affected male offspring. Recently, the XLMTM gene knock-in mouse, Mtm1 p.R69C, was found to have a similar phenotype as the MTM1 gene mutation in humans (e.g., central nucleation of small myofibers, attenuated muscle strength, and motor unit potentials). Using this rodent model, we investigated whether syngeneic cell therapy could mitigate muscle weakness. Donor skeletal muscle-derived myoblasts were isolated from C57BL6 wild-type (WT) and Mtm1 p.R69C (KI) mice  for transplantation into the gastrocnemius muscle of recipient KI mice. Initial experiments demonstrated that donor skeletal muscle-derived myoblasts from WT and KI mice remained in the gastrocnemius muscle of the recipient KI mouse for up to 4 weeks posttransplantation. KI mice receiving syngeneic skeletal muscle-derived myoblasts displayed an increase in skeletal muscle mass, augmented force generation, and increased nerveevoked skeletal muscle action potential amplitude. Taken together, these results support our hypothesis that syngeneic cell therapy may potentially be used to ameliorate muscle weakness and delay the progression of XLMTM, as application expands to other muscles.

Original languageEnglish (US)
Pages (from-to)1887-1900
Number of pages14
JournalCell transplantation
Issue number9
StatePublished - Sep 14 2015
Externally publishedYes


  • Muscle physiologic functions
  • Muscle regeneration
  • Myoblast
  • Syngeneic cell transplantation
  • X-linked myotubular myopathy (XLMTM)

ASJC Scopus subject areas

  • Medicine(all)


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