stop-codon read-through
Enhanced stop-codon read-through is a potential alternative or adjunct therapeutic strategy for genetic diseases.
Premature stop-codon mutations have been identified in a large cohort of patients with genetic diseases, making stop-codon read-through a possible treatment for this disease.
For example, in lysosomal-storage-disorder cells (mucopolysaccharidosis type I, alpha-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.
References
Brooks DA, Muller VJ, Hopwood JJ. Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol Med. 2006 Aug;12(8):367-73. PMID: 16798086