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Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Hämatologie, Abteilung » PD Dr. Markus Schmugge Liner » Speer

Completed research project

Title / Titel The Role of microRNAs in Childhood Anaemia
PDF Abstract (PDF, 14 KB)
Summary / Zusammenfassung MicroRNAs are a family of non-coding small ∼22-nucleotide RNAs that regulate gene
expression by targeting mRNAs in a sequence specific manner. microRNAs induce translational
repression or mRNA degradation, depending on the degree of complementarity between microRNAs and their targets. Many microRNAs are conserved in sequence between distantly related organisms, suggesting that microRNAs are essential. Little is known about the physiological role of the presently known ∼500 human microRNAs, even less about their clinical relevance. Certain mutations found in humans within the β globin gene cluster located on chromosome 16 somehow cause persistent HbF synthesis after birth. The resulting high levels of HbF ameliorate symptoms in forms of anaemia such as thalassaemia and sickle cell disease. Pharmacological agents, i.e. hydroxyurea, can reactivate γ gene expression.
Presently we study microRNAs from paediatric patients with thalassaemia, sickle cell disease, congenital or acquired anaemias (such as Blackfan-Diamond anaemia or iron deficiency anaemia), and from healthy infants, children and adults. By comparing microRNA patterns we want to identify microRNAs that are differentially expressed among the patient groups and controls. We aim to identify new microRNAs potentially involved in the regulation of fetal haemoglobin by predicting hairpin structures within intergenic globin regions. For this purpose we have developed a new protocol to validate the predicted microRNAs.
Identification of microRNAs that play a role in the regulation of haemoglobin synthesis can facilitate the design of new drugs, i.e. for the induction of fetal haemoglobin in sickle cell disease or thalassemia patients.
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Keywords / Suchbegriffe microRNAs, anaemia, thalassaemia, sickle cell disease, haemoglobin
Project leadership and contacts /
Projektleitung und Kontakte
Dr Oliver Speer (Project Leader) oliver.speer@kispi.uzh.ch
PD Dr Markus Schmugge markus.schmugge@kispi.uzh.ch
Msc Imane Azzouzi imane.azzouzi@kispi.uzh.ch
Funding source(s) /
Unterstützt durch
Forschungskredit der Universität Zürich, Foundation
Hartmann-Müller, Olga Mayenfisch, Roche Foundation for Anemia Research RoFAR
Duration of Project / Projektdauer Feb 2008 to Feb 2011