For the first time, Imperial College London researchers at the Hammersmith Hospital studying a rare bone marrow disease have found an association between telomere shortening - changes in the lengths of DNA repeats at the end of chromosomes - and the time of development and severity of disease symptoms in patients.
Reporting in Nature Genetics today (18 April 2004), the Hammersmith team, collaborating with scientists at the Washington University School of Medicine in the USA, is hoping that the findings could lead to better screening for this and other diseases, as well as suggest targets for new therapies.
Dyskeratosis congenita (DC) is a rare but serious inherited condition where the body is unable to make adequate numbers of blood cells. It can lead to bone marrow failure and a much higher risk of developing cancer. People with DC also have a mutation in an enzyme (telomerase) which repairs telomeres (sections of DNA repeats which cap the ends of chromosomes) and as a result, telomere length in their chromosomes is shorter.
Tony Stephenson | alfa
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