2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

Medientyp: E-Artikel
Titel: 2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations
Beteiligte: Trzaska, Carole; Amand, Séverine; Bailly, Christine; Leroy, Catherine; Marchand, Virginie; Duvernois-Berthet, Evelyne; Saliou, Jean-Michel; Benhabiles, Hana; Werkmeister, Elisabeth; Chassat, Thierry; Guilbert, Romain; Hannebique, David; Mouray, Anthony; Copin, Marie-Christine; Moreau, Pierre-Arthur; Adriaenssens, Eric; Kulozik, Andreas; Westhof, Eric; Tulasne, David; Motorin, Yuri; Rebuffat, Sylvie; Lejeune, Fabrice
Erschienen: Springer Science and Business Media LLC, 2020
Erschienen in: Nature Communications, 11 (2020) 1
Sprache: Englisch
DOI: 10.1038/s41467-020-15140-z
ISSN: 2041-1723
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Beschreibung: <jats:title>Abstract</jats:title><jats:p>Nonsense mutations cause about 10% of genetic disease cases, and no treatments are available. Nonsense mutations can be corrected by molecules with nonsense mutation readthrough activity. An extract of the mushroom <jats:italic>Lepista inversa</jats:italic> has recently shown high-efficiency correction of UGA and UAA nonsense mutations. One active constituent of this extract is 2,6-diaminopurine (DAP). In Calu-6 cancer cells, in which <jats:italic>TP53</jats:italic> gene has a UGA nonsense mutation, DAP treatment increases p53 level. It also decreases the growth of tumors arising from Calu-6 cells injected into immunodeficient nude mice. DAP acts by interfering with the activity of a tRNA-specific 2′-O-methyltransferase (FTSJ1) responsible for cytosine 34 modification in tRNA<jats:sup>Trp</jats:sup>. Low-toxicity and high-efficiency UGA nonsense mutation correction make DAP a good candidate for the development of treatments for genetic diseases caused by nonsense mutations.</jats:p>
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