Skeletal muscleWIKIPEDIA, JAGIELLONIAN UNIVERSITY MEDICAL COLLEGEIf you prod a zebrafish embryo, it will normally twitch its tail and try to escape. By watching embryos that wouldn’t twitch properly, a team of scientists has discovered that a gene called STAC3 is the cause of a rare inherited muscle disorder called Native American myopathy (NAM). The team also showed that STAC3 plays an important and previously unrecognized role in muscle contractions.
“We studied this fish and, lo and behold, we found a gene that causes a really nasty human disease. I find it really gratifying,” said John Kuwada from the University of Michigan, who led the study. “It shows that this kind of research with model systems can be quite beneficial.”
“It’s a creative approach,” said Filippo Santorelli, a myopathy researcher at Stella Maris Foundation Research Hospital in Pisa, Italy, who was not involved in the study. Disease genes are usually discovered in humans and then studied in animal models, but this study did the opposite. “It’s an elegant example of ‘reverse evolutionary genetics.’”
Kuwada’s team bred a diverse range of mutant zebrafish, then checked for embryos with obvious motor problems—an intensive process involving eight scientists ...
