Accidental Discovery Gives Insight into New Potential Method of Diagnosis for Mastocytosis


Mastocytosis is a rare disease caused by mutations in the KIT gene. The condition causes mast cells to accumulate in the body. Depending on the location of these immune cells and the severity of their accumulation, mastocytosis can be fatal. Unfortunately, there has yet to be a cure for this disease.

However, a new understanding of KIT gene mutations has brought renewed hope to the search for a treatment.

This research was conducted by scientists at the Karolinska Institutet and scientists at Uppsala University.

New Research

Researchers at these two prestigious centers aimed to provide a deeper insight into the origins of systemic mastocytosis. To accomplish this task, they mapped the KIT mutation to uncover which cells contained the malfunctioning gene.

The researchers analyzed the prevalence of the KIT mutation in over 10,000 different bone marrow cells. In some patients, researchers found that the KIT mutation could actually be traced back to the blood stem cells. They believe the presence of the mutation in these cells could indicate why it has been so difficult to find an effective treatment for mastocytosis.

Additionally, researchers noted that the mast cells which were mutated out-competed the mast cells which were not mutated in all patients. If the healthy cells were stronger, perhaps the effect of the disease would not be as strong.

An Accidental Discovery

The scientists also found, quite accidentally, that the mutated cells in mastocytosis patients expressed extremely high levels of the CD45RA protein. Since there was such a stark difference between the numbers of this protein between the patients in the study and the control group, researchers believe that it could become key to diagnosing the disease. ‘

This accidental discovery is just as exciting to the scientific community as was the original mission of this research. With improved diagnostic methods from this new understanding of CD45RA, and the development of new treatment options thanks to an improved understanding of mast cells, we could ultimately improve patient lives.

The study was published in EBioMedicine.

You can read more about this study and what its findings could mean for patients here.

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