Scientists in Boston have discovered a possible new treatment for dyskeratosis congenita (DC), which could prevent or reverse DC for people carrying the PARN or DKC1 (and possibly other) gene variants (mutations). Tests in the laboratory show that the telomeres in genetically modified stem cells normalised when the cells were treated with BCH001 (a PAPD5 inhibitor). Cells from a patient affected by DC due to PARN also responded well to this treatment. Even more encouragingly, the telomere length in laboratory mice carrying the human PARN variant returned to normal when the mice were fed RG703 (a related PAPD5 inhibitor).
This looks like a breakthrough to DC Action. We are hoping for more news and possibly a trial before too long….
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In a separate study, cells with mutations in PARN or DKC1 treated with RG7834, a novel small molecule inhibitor of PAPD5 andPAPD7 led to increased TERC levels and correct localisation in the cell.
The chemical inhibition of PAPD5/7was sufficient to elongate telomeres in DKC1 mutant cells and to significantly improve the potential of these cells to make new blood cells.