UNC Logo Polycythemia is a disease that results in extensive production of red blood cells and in some cases may be a predecessor of acute leukemia. A new research conducted at UNC Lineberger Comprehensive Cancer Center has presented a genetic finding that strives to offer a ray of hope for people with an orphan disease called Chuvash polycythemia. The uncommonness of the disorder gives it the term orphan.

Mutation in the JAK2 gene is linked with 95 percent of polycythmeia cases. However, few patients may have developed mutation in the von Hippel-Lindau gene that results in the production of a protein called pVHL.

“It was thought that these two types of polycythemia would need treatments targeting different biochemical pathways,” specified William Kim, MD, one of the study authors and a member of UNC Lineberger Comprehensive Cancer Center. Kim is an assistant professor of Medicine and Genetics at UNC-Chapel Hill.

Both the diseases display activation of JAK2 even though their origins are different. This seems to interest scientists as JAK2 inhibitors are available for clinical tests at a later stage that could be used for patients with JAK2 mutant polycythemia.

The experiment demonstrates in models that inhibition of JAK2 may be a competent method for both kinds of the disease. Normally, few individuals with a Chuvash VHL mutation may tend to make this type of polycythemia an orphan disease. The number of patients don’t seem to be sufficient for the progress of an aimed therapy by pharmaceutical companies.

Kim concludes by stating that though JAK2 inhibitors look like a preferable option in the laboratory models of Chuvash polycythemia, they have not been used in human trails as of now.

The research was published earlier this week in the journal Nature Medicine.