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PTC124 targets genetic disorders caused by nonsense mutations

Author

Listed:
  • 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)

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.

Suggested Citation

  • 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 , 2007. "PTC124 targets genetic disorders caused by nonsense mutations," Nature, Nature, vol. 447(7140), pages 87-91, May.
    • Handle: RePEc:nat:nature:v:447:y:2007:i:7140:d:10.1038_nature05756
    DOI: 10.1038/nature05756
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    Cited by:

    1. Kotchaphorn Mangkalaphiban & Lianwu Fu & Ming Du & Kari Thrasher & Kim M. Keeling & David M. Bedwell & Allan Jacobson, 2024. "Extended stop codon context predicts nonsense codon readthrough efficiency in human cells," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
    2. Shijie Huang & Arpan Bhattacharya & Mikel D. Ghelfi & Hong Li & Clark Fritsch & David M. Chenoweth & Yale E. Goldman & Barry S. Cooperman, 2022. "Ataluren binds to multiple protein synthesis apparatus sites and competitively inhibits release factor-dependent termination," Nature Communications, Nature, vol. 13(1), pages 1-14, December.

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