Leading cancer experts at the University of Birmingham (UK) have solved a long-standing question of how various types of mutations in just one gene cause different types of diseases. A team of scientists at the University's Institute of Cancer and Genomic Sciences, led by Professor Constanze Bonifer, PhD, studied a gene known as RUNX1 (https://en.wikipedia.org/wiki/RUNX1) (image here is graphic reprentation of the RUNX1 protein), which is responsible for providing instructions for the development of all blood cells and is frequently mutated in blood cancers. The results of the team’s research has shown that the balance of cells types in the blood is affected much earlier than previously thought, which is particularly important for families that carry the mutant gene. The research, published online on January 4, 2021 in Life Science Alliance, opens up the possibility of identifying early changes in cells of patients carrying the mutation even before any disease manifests itself--increasing their chances of survival. The study, the culmination of four years of research, showed that while some types of RUNX1 mutations directly changed how other genes behaved in blood cells, not all did. In particular, the mutations that are inherited through families do not immediately affect the cells but instead change the roadmap (differentiation trajectory) they follow to become other cell types, such as platelets and white blood cells.
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