Dyskeratosis congenita medical therapy

Dyskeratosis congenita Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Medical Therapy

Recent research has used induced pluripotent stem cells to study the disease mechanisms in humans, and discovered that the repgrogramming of somatic cells restores telomere elongation in dyskeratosis congenita cells despite the genetic lesions that affect telomerase. The reprogrammed DC cells were able to overcome a critical limitation in TERC (Telomerase RNA component) levels and restored function (telomere maintenance and self-renewal). Therapeutically, methods aimed at increasing TERC expression could prove beneficial in DC patients.