An internally truncated form of γ-sarcoglycan can substitute for the full-length protein, according to new research published in The Journal of Clinical Investigation. Gao et al. used an exon-skipping approach to bypass a frameshift mutation in the γ-sarcoglycan (SGCG) gene that causes limb-girdle muscular dystrophy. The resulting protein, termed Mini-Gamma, rescued γ-sarcoglycan deficiency in transgenic flies and mice. The researchers also demonstrated induction of exon skipping in human cells carrying SGCG mutations, implying that exon skipping could be a viable therapeutic approach in patients with limb-girdle muscular dystrophy.
References
Gao, Q. Q. et al. Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping. J. Clin. Invest. 10.1172/JCI82768
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Exon skipping rescues γ-sarcoglycan deficiency. Nat Rev Neurol 11, 612 (2015). https://doi.org/10.1038/nrneurol.2015.189
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DOI: https://doi.org/10.1038/nrneurol.2015.189