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Dyskeratosis congenita, stem cells and telomeres

Michael Kirwan * Inderjeet Dokal
* Corresponding author
Abstract : Dyskeratosis congenita (DC) is a multi-system disorder which in its classical form is characterized by abnormalities of the skin, nails and mucous membranes. In approximately 80% of cases, it is associated with bone marrow dysfunction. A variety of other abnormalities (including bone, brain, cancer, dental, eye, gastro-intestinal, immunological and lung) have also been reported. Although first described almost a century ago it is the last 10yrs, following the identification of the first DC gene () in 1998, in which there has been rapid progress in its understanding. Six genes have been identified, defects in which cause different genetic subtypes (X-linked recessive, autosomal dominant, autosomal recessive) of DC. The products of these genes encode components that are critical for telomere maintenance; either because they are core constituents of telomerase (dyskerin, TERC, TERT, NOP10 and NHP2) or are part of the shelterin complex that protects the telomeric end (TIN2). These advances have also highlighted the connection between the more “cryptic/atypical” forms of the disease including aplastic anaemia and idiopathic pulmonary fibrosis. Equally, studies on this disease have demonstrated the critical importance of telomeres in human cells (including stem cells) and the severe consequences of their dysfunction. In this context DC and related diseases can now be regarded as disorders of “telomere and stem cell dysfunction”.
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Submitted on : Tuesday, May 25, 2010 - 2:50:17 AM
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Michael Kirwan, Inderjeet Dokal. Dyskeratosis congenita, stem cells and telomeres. Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2009, 1792 (4), pp.371. ⟨10.1016/j.bbadis.2009.01.010⟩. ⟨hal-00486072⟩



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