Scientists Find a Drug That Could Fix a Cancer-Causing Gene Glitch

Scientists in Sweden have discovered that a broken version of a gene called KBTBD4 can cause blood stem cells to stop working the right way, which may lead to cancer. Blood stem cells are special cells in our bodies that grow into all the different types of blood cells we need to stay healthy. When the KBTBD4 gene is mutated, or changed in a harmful way, these stem cells pile up in an immature form and never fully develop. Researchers found that a drug called mocetinostat can fix this problem and get the cells back on track.

The research team studied human blood stem cells taken from umbilical cord blood collected at hospitals in Sweden. They used lab tools to separate the stem cells from the rest of the blood so they could study them closely. Scientists then introduced the faulty KBTBD4 gene into healthy stem cells and watched what happened. Instead of growing into different blood cells, the mutated cells just kept multiplying in an early, unfinished state — a problem called a differentiation defect.

The scientists figured out that the mutated KBTBD4 protein destroys another protein called CoREST, which helps control how genes are switched on and off inside stem cells. Without CoREST, the stem cells get confused and cannot develop properly. Think of CoREST as a set of instructions — when those instructions are shredded, the cell does not know what to build next. Losing CoREST is a key reason why the mutated cells get stuck and cannot mature.

To find a cure, researchers tested hundreds of drugs and discovered that a group called HDAC inhibitors could protect CoREST from being destroyed. One drug called mocetinostat stood out as especially effective at reversing the damage caused by the KBTBD4 mutation. When stem cells with the bad gene were treated with this drug, they began to develop normally again. This gives scientists a promising new way to fight cancers linked to this gene mutation.