How do mutations in RUNX1 cause the FPD/AML disorder?


A RUNX1 mutation is a permanent alteration in the DNA sequence that makes up the RUNX1 gene, such that the sequence differs from normal. In those with FPD/AML, one copy of the RUNX1 gene is mutated, and the result is overall reduced levels of normal RUNX1 protein. A normal amount of RUNX1 protein is required for the proper development of megakaryoctyes, and these cells are what produce platelets (the part of our blood responsible for clotting). Hence, individuals with RUNX1 FPD/AML typically have low platelet counts (thrombocytopenia) along with dysfunctional platelets. See below for how RUNX1 FPD/AML can progress to leukemia.

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Created by runx1 31 weeks 3 days ago – Made popular 31 weeks 3 days ago
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