Mice bearing the mutations underlying two human heart syndromes have pointed the way to possible treatments. Noonan and LEOPARD syndromes both cause short stature, facial deformities and abnormally thick hearts that cannot pump properly.
Benjamin Neel and Toshiyuki Araki of the Ontario Cancer Institute in Toronto, Canada, and their co-workers, engineered mice to have the mutation in the Raf1 gene that underlies Noonan disease. In addition to features of the human syndrome, the mice had increased activity of the Mek protein. Pups given a Mek inhibitor started small but they grew faster and caught up with normal mice by a couple of weeks after birth.
Meanwhile, Neel and Maria Kontaridis of Harvard Medical School in Boston and their colleagues inserted into mice the mutation in the Ptpn11 gene that causes LEOPARD syndrome. The activity of a protein called mTor was abnormally high in these mice, and giving them the mTor inhibitor rapamycin repaired heart defects.
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Clues from big-hearted mice. Nature 471, 9 (2011). https://doi.org/10.1038/471009d
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DOI: https://doi.org/10.1038/471009d
