Blood Cancer Chromosome 21 By Manasi Shah Core

Blood Cancer & Chromosome 21 By Manasi Shah

Core Binding Factor Acute Myeloid Leukemia (CBF-AML) • AML is a type of cancer that affects bone marrow and blood cells • Caused by a translocation between chromosome 8 and chromosome 21 • The translocation causes a fusion of two genes, resulting in a protein complex

What Usually Happens… • Chromosome 21’s RUNX 1 gene makes the RUNX 1 protein which binds to other genes to turn on their expression • In this case it binds to the CBFB gene and the core binding factor (CBF) is formed • CBF binds to DNA to control hematopoiesis (development of blood cells, specifically hematopoietic stem cells) • Chromosome 8 has a gene called RUNX 1 T 1 which codes for the production of the ETO protein – This protein’s job is to help suppress gene expression

In CBF-AML • Protein produced by the translocation is a complex protein known as RUNX 1 -ETO • The protein allows the production of CBF but the RUNX 1 T 1 causes CBF to turn off genes instead of turning them on so the blood cells do not develop – They become immature white blood cells called myeloid blasts

Symptoms • Hematopoietic stem cells develop into – Red blood cells which carry oxygen – White blood cells which help the immune system and make up part of the bone marrow – Platelets which help with blood clotting • Individual can have a weakened immune system, anemia, fatigue and weakness, easy bruising and internal bleeding

Other Facts • Prognosis is good compared to other forms of myeloid leukemia, however many patients relapse • Other mutations and translocations of the RUNX 1 gene have been known to cause other forms of leukemia and blood disorders • Mutations within the somatic cells (body cells) of the body not the gametes (which are passed on from your parents) – This means that the condition is not genetically inherited, it develops throughout the lifetime

References • http: //www. hematology. org/Patients/Basics/ • http: //ghr. nlm. nih. gov/condition/core-binding -factor-acute-myeloid-leukemia • http: //ghr. nlm. nih. gov/gene/RUNX 1