An eight-year quest to find the cause of a disease has apparently ended now that scientists at UW-Madison have identified the mutations that produce a form of myelofibrosis, a rare genetic blood disorder.
Mutations in a protein that controls the production of blood platelets appear to be the source of a genetically inherited form of macrothrombocytopenia with focal myelofibrosis, according to Inga Hofmann, MD, assistant professor of pediatrics, medical director for the UW Program for Advanced Cell Therapy, and lead author on the paper.
The results were recently featured as the September cover article in the journal Blood.
Hofmann and her team showed that the protein, G6b-B, which also regulates the production and function of megakaryocyte – a large bone marrow cell – can be manipulated to increase production of blood platelets, suggesting a potentially new treatment approach, Hofmann said.
“This is the first cause ever identified,” she said.