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DR Beth PAYNE

DBA Research Update. DR Beth PAYNE. Researching what goes wrong in DBA – WHAT DO WE KNOW?. Mistakes or absence one copy of a group of genes These genes code for ribosomal proteins. US National library of Medicine. Researching what goes wrong in DBA – WHAT DO WE KNOW?.

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DR Beth PAYNE

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  1. DBA Research Update DR Beth PAYNE

  2. Researching what goes wrong in DBA – WHAT DO WE KNOW? • Mistakes or absence one copy of a group of genes • These genes code for ribosomal proteins US National library of Medicine

  3. Researching what goes wrong in DBA – WHAT DO WE KNOW? • Red blood cells die prematurely

  4. Researching what goes wrong in DBA – WHAT WOULD WE LIKE TO KNOW? • Since ribosomes are needed in all cells, why does DBA mainly cause problems with red blood cells?

  5. How to answer our questions? • Patients and their families are the greatest teachers • Some experiments cannot be done on patients so we need to learn more using other laboratory models

  6. Zebrafish

  7. Why do we use zebrafish? 2mm

  8. Effects of Leucine in DBA zebrafish

  9. How l-leucine alleviate anaemia in DBA fish? • We think L-leucine switches on production of ribosomal proteins • This may be important in patients with DBA because they have a missing or defective copy of a RP

  10. How does this happen? This part controls how much protein is made This part actually codes for the protein RPS19 messenger RNA 5’TOP

  11. Increasing production of Ribosomal proteins 5’TOP RPS19 messenger RNA

  12. We made a fish to test this Express in Blood TOP GFP

  13. Checking out the theory

  14. The Goal • Confirm how L-Leucine works to alleviate anaemia in DBA in humans • Use the zebrafish we have generate to screen for new drug treatments that work in this way

  15. Acknowledgements DFCI/Harvard Medical School USA Tom Look Evisa Gjini UjwalPyati Hong Sun AratiKhanna-Gupta Nancy Berliner AnuNarla Ben Ebert UCL Maria Virgilio Greg Pietka YoungrockJoung Tariq Enver Steve Wilson David Linch St Marys/Imperial College Josu De La Fuente DBA Patients and families!!!

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