Jan 23, 2003

Stem cells, telomerase and dyskeratosis congenita

BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology
Philip J Mason

Abstract

Dyskeratosis congenita is a rare skin and bone marrow failure syndrome caused by defective telomere maintenance in stem cells. The major X-linked form of the disease is due to mutations in a nucleolar protein, dyskerin, that is part of small nucleolar ribonucleoprotein particles that are involved in processing ribosomal RNA. It is also found in the telomerase complex, pointing to an unexpected link between these two processes. An autosomal dominant form is due to mutations in the RNA component of telomerase (hTR). Patients with this form of the disease are more severely affected in later generations that carry the mutations, possibly due to the inheritance of shortened telomeres, disguising the inherited nature of the disease in some cases classified as aplastic anemia. Because of the importance of telomerase in tumour formation and aging, study of this disease may provide important clues about these fundamental processes.

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Mentioned in this Paper

Bone Marrow Failure Syndromes
Aplastic Anemia
Cell Cycle Proteins
Telomere Shortening
Telomerase Catalytic Subunit
Genetic Conditions, Dominant
Neoplasms
Tumor Lysis Syndrome
Ribosomal RNA
Etiology

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