This years Nobel Prize in Physiology and Medicine was awarded for findings that revealed the crucial role telomeres play in maintenance of linear chromosomes. A recent review in NEJM covers the medical implications of these discoveries. It always gets tricky when alteration of a single molecular mechanism underlies a wide range of pathological conditions but we already seem to have some critical knowledge. The review covers some examples of telomere associated diseases, namely Bone Marrow Failure, Dyskeratosis Congenita, Acquired Aplastic Anemia, Pulmonary Fibrosis and a sometimes associated Liver Diesease. All of these show mutations in genes responsible for certain functions in telomere end maintenance like DKC1 which codes for the telomerase complex stabilizing protein dyskerin, TERC coding for the telomerase RNA component or TERT the telomerase reverse transcriptase itself.
Again there is the major drawback that we have no idea how to make use of this knowledge. We know that telomere end maintenance affects ageing, induces tumors and plays an important role in the above mentioned diseases, yet we do not fully understand why and how we can interfere. Yet.
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