Cell biology: Genetic clues help to solve myopathy mysteries

Mutations in a specific gene have been identified as the cause of Native American Myopathy - a rare chromosomal disorder. The findings, reported in Nature Communications this week, reveal a potential new target for the treatment of the disorder.

Native American myopathy is a congenital disorder that presents with numerous debilitating symptoms that include muscle weakness, difficulty with breathing and feeding, slower development, and muscle cramps, stiffness and spasm. While the effects of the disorder are well-documented the mechanisms which contribute to the disorder are poorly understood. To investigate this further, Hiromi Hirata, John Kuwada and their colleagues take advantage of the zebrafish’s amenability to genetic analysis, to screen for mutated genes that might be causal for Native American myopathy. They identify mutations in the gene Stac3, which affect skeletal muscle contraction when mutated in zebrafish. Importantly, they find that human Native American myopathy patients have similar mutations in the same gene.

While the authors acknowledge that mutations in Statc3 could result in Native American myopathy through a number of mechanisms, they hope that this study will provide the basis for future research into Native American myopathy and that their approach will be helpful in studying currently undefined congenital myopathies.

doi: 10.1038/ncomms2952

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