PTC124 targets genetic disorders caused by nonsense mutations

Ellen M. Welch, Elisabeth R. Barton, Jin Zhuo, Yuki Tomizawa, Westley J. Friesen, Panayiota Trifillis, Sergey Paushkin, Meenal Patel, Christopher R. Trotta, Seongwoo Hwang, Richard G. Wilde, Gary Karp, James Takasugi, Guangming Chen, Stephen Jones, Hongyu Ren, Young-Choon Moon, Donald Corson, Anthony A. Turpoff, Jeffrey A. Campbell, M. Morgan Conn, Atiyya Khan, Neil G. Almstead, Jean Hedrick, Anna Mollin, Nicole Risher, Marla Weetall, Shirley Yeh, Arthur A. Branstrom, Joseph M. Colacino, John Babiak, William D. Ju, Samit Hirawat, Valerie J. Northcutt, Langdon L. Miller, Phyllis Spatrick, Feng He, Masataka Kawana, Huisheng Feng, Allan Jacobson, Stuart W. Peltz and H. Lee Sweeney
Additional contact information
Ellen M. Welch: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Elisabeth R. Barton: University of Pennsylvania School of Medicine, 3700 Hamilton Walk, Philadelphia, Pennsylvania 19104, USA
Jin Zhuo: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Yuki Tomizawa: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Westley J. Friesen: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Panayiota Trifillis: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Sergey Paushkin: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Meenal Patel: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Christopher R. Trotta: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Seongwoo Hwang: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Richard G. Wilde: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Gary Karp: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
James Takasugi: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Guangming Chen: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Stephen Jones: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Hongyu Ren: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Young-Choon Moon: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Donald Corson: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Anthony A. Turpoff: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Jeffrey A. Campbell: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
M. Morgan Conn: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Atiyya Khan: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Neil G. Almstead: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Jean Hedrick: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Anna Mollin: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Nicole Risher: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Marla Weetall: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Shirley Yeh: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Arthur A. Branstrom: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Joseph M. Colacino: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
John Babiak: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
William D. Ju: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Samit Hirawat: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Valerie J. Northcutt: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Langdon L. Miller: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
Phyllis Spatrick: University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, Massachusetts 01655, USA
Feng He: University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, Massachusetts 01655, USA
Masataka Kawana: University of Pennsylvania School of Medicine, 3700 Hamilton Walk, Philadelphia, Pennsylvania 19104, USA
Huisheng Feng: University of Pennsylvania School of Medicine, 3700 Hamilton Walk, Philadelphia, Pennsylvania 19104, USA
Allan Jacobson: University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, Massachusetts 01655, USA
Stuart W. Peltz: PTC Therapeutics, 100 Corporate Court, South Plainfield, New Jersey 07080, USA
H. Lee Sweeney: University of Pennsylvania School of Medicine, 3700 Hamilton Walk, Philadelphia, Pennsylvania 19104, USA

Nature, 2007, vol. 447, issue 7140, 87-91

Abstract: PTC124: a no-nonsense drug Many inherited diseases result from premature termination during translation of a messenger RNA into protein; one such disease is muscular dystrophy. Welch et al. now report that a small molecule, PTC124, enables the translation machinery to bypass sites that cause premature termination, but still terminate normally at the end of the mRNA. In human and mouse cells, this drug restores normal translation of the gene that is mutated in muscular dystrophy, and it restores muscle function in the mdx mouse model for the human disease. This work offers the hope that similar drugs might be used to target nonsense mutations and restore protein function in a wide variety of diseases. PTC124 is now undergoing clinical trials in muscular dystrophy and cystic fibrosis patients.

Date: 2007
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DOI: 10.1038/nature05756

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