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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Dyskeratosis congenita medical therapy

Introduction

Medical Therapy

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. [1]

References

References

  1. ↑ Agarwal; et al. (2010). “: Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients”. Nature. 464: 292–296. doi:10.1038/nature08792. PMID 20164838.

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