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Role of telomeres in patients with myeloproliferative syndromes

English title Role of telomeres in patients with myeloproliferative syndromes
Applicant Baerlocher Gabriela
Number 105840
Funding scheme Project funding
Research institution Universitätsklinik für Hämatologie und Hämatologisches Zentrallabor Inselspital
Institution of higher education University of Berne - BE
Main discipline Clinical Cancer Research
Start/End 01.09.2005 - 28.02.2010
Approved amount 209'276.00
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Keywords (9)

myeloproliferative syndromes; essential thrombocytosis; idiopathic myelofibrosis; telomere; telomere length; primary myelofibrosis; chromosome ends; DNA repeats; telomeres

Lay Summary (English)

Lay summary
Background: Patients with myeloproliferative syndromes (chronic myeloid leukaemia, polycythemia vera, essential thrombocythosis, primary myelofibrosis) suffer from conditions that cause blood cells - red blood cells, white blood cells and platelets - to grow abnormally in the bone marrow. Due to this overproduction of cells in the bone marrow higher quantities of blood cells are found in the circulation, which can lead to disturbances of the blood flow by blockage of the vessels (thromboses) and/or to insufficient hemostasis. As a result patients can experience symptoms of ischemias (decreased tissue perfusion) and/or bleedings. The presentation, however, is highly variable from patient to patient and ranges from no symptoms to a long history of devastating strokes or bleedings. Moreover, some patients with myeloproliferative syndromes are also at a somewhat higher risk to develop leukaemia. Until recently, only chronic myeloid leukaemia with the translocation t(9;22) called Philadelphia chromosome, was defined by a molecular marker. In the last few years, however, molecular markers (JAK2-mutation, deletion on chromosome 9 etc) involved in the mechanism of Philadelphia-chromosome negative myeloproliferative syndromes have been identified. These molecular markers are important to establish the diagnosis and are potentially useful for new therapeutic strategies. So far, however, we have no idea when and in what cell types the different myeloproliferative syndromes initiate. Each time when a cell divides into two daughter cells small parts of their chromosome ends (telomeres, DNA repeats) are lost. Therefore, the loss of such DNA repeats can be used as a marker for the number of cell divisions undergone. Aims: Our aims are to look at the proliferation history and behaviour of the pathological cells by studying the loss of DNA repeats in order to see whether we can identify how long ago and where in the hematopoietic system the disease started, whether the extent of the cell proliferation will lead to genetic instability and therefore could predispose for the development of leukemia and whether certain proteins involved in DNA (chromosome) repair are differentially expressed.Expected value: Such answers should give us more insights in the biology of these diseases and should help us to identify better therapeutic strategies.
Direct link to Lay Summary Last update: 21.02.2013

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