Provides editorial context on the discovery of a human myostatin mutation leading to muscle hypertrophy, extending previous findings from mouse models.
In this issue of the Journal, Schuelke et al. (pages 2682–2688) describe a child with substantial muscle hypertrophy and a splice-site mutation in the gene encoding myostatin. Myostatin is a member of the transforming growth factor β (TGF-β) family. Members of this family are diverse but have in common the regulation of growth and differentiation from the earliest stages of embryogenesis to mature adult tissues and cell types. Myostatin, or growth and differentiation factor 8 (GDF-8), was first defined as a negative regulator of muscle mass on the basis of a mouse model from which the gene encoding myostatin had . . .
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Elizabeth M. McNally (2004) studied this question.
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