Stop-codon read-through for patients affected by a lysosomal storage disorder

Doug A. Brooks, Viv J. Muller, John J. Hopwood

Research output: Contribution to journalReview articlepeer-review

73 Citations (Scopus)

Abstract

Lysosomal storage disorders are a group of inherited diseases that can result in severe and progressive pathology due to a specific lysosomal dysfunction. Current treatment strategies include bone-marrow transplantation, substrate reduction, chemical-chaperone and enzyme-replacement therapy. However, each of these treatments has its limitations. Enhanced stop-codon read-through is a potential alternative or adjunct therapeutic strategy for treating lysosomal-storage-disorder patients. Premature stop-codon mutations have been identified in a large cohort of patients with a lysosomal storage disorder, making stop-codon read-through a possible treatment for this disease. In lysosomal-storage-disorder cells (mucopolysaccharidosis type I, α-L-iduronidase deficient), preclinical studies have shown that gentamicin induced the read-through of premature stop codons, resulting in enzyme activity that reduced substrate storage. Crown

Original languageEnglish
Pages (from-to)367-373
Number of pages7
JournalTrends in Molecular Medicine
Volume12
Issue number8
DOIs
Publication statusPublished or Issued - Aug 2006

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

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