What causes ASM?
Changes in chromosomes (genetic material) are a major cause of abnormal genetic conditions in humans. If the change involves a mutation in a gene then the protein produced by the gene will usually not function as intended. If the change involves a deletion within a gene, there is a loss of genetic information, resulting in a shorter than normal protein that will also usually not function as intended. ASM is associated with a specific mutation within the c-Kit gene on chromosome 4 or a deletion within the chromosome that causes abnormal activation of the platelet-derived growth factor receptor gene, known as PDGFR. This new gene makes an abnormal protein that adversely impacts normal cellular processes, causing cells to multiply out of control.
