Format

Send to

Choose Destination
See comment in PubMed Commons below
Trends Genet. 2008 Nov;24(11):552-63. doi: 10.1016/j.tig.2008.08.010. Epub 2008 Oct 18.

Introducing sense into nonsense in treatments of human genetic diseases.

Author information

1
Department of Genetics, The Life Sciences Institute, Givat Ram Campus, The Hebrew University, Jerusalem 91904, Israel.

Abstract

Approximately one-third of alleles causing genetic diseases carry premature termination codons (PTCs), which lead to the production of truncated proteins. The past decade has seen considerable interest in therapeutic approaches aimed at readthrough of in-frame PTCs to enable synthesis of full-length proteins. However, attempts to readthrough PTCs in many diseases resulted in variable effects. Here, we focus on the efforts of such therapeutic approaches in cystic fibrosis and Duchenne muscular dystrophy and discuss the factors contributing to successful readthrough and how the nonsense-mediated mRNA decay (NMD) pathway regulates this response. A deeper understanding of the molecular basis for variable response to readthrough of PTCs is necessary so that appropriate therapies can be developed to treat many human genetic diseases caused by PTCs.

PMID:
18937996
DOI:
10.1016/j.tig.2008.08.010
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center