CERTAIN forms of genetic disease could be beaten by overcoming so-called 鈥渘onsense鈥� mutations that cause them.
Nonsense mutations put 鈥渟top鈥� signals in the middle of genes, causing cells鈥� protein-making machinery to finish early. The result is non-functional proteins that cause diseases such as cystic fibrosis and Duchenne muscular dystrophy (DMD).
Lee Sweeney of the University of Pennsylvania in Philadelphia and colleagues previously found that the antibiotic gentamicin could overcome the mutations responsible for 15 per cent of DMD cases (New 杏吧原创, 14 August 1999, p 21). It proved too toxic at the required levels, so Sweeney鈥檚 team screened 800,000 similar molecules to develop a drug called PTC124 (Nature, ). PTC124 restored muscle function in a mouse model of DMD and has proved relatively safe in early human trials.
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