WHY DO MUTATIONS OF THE CHAMP1 GENE MATTER?
WE DON’T KNOW FOR SURE YET.
There’s been very little research so far, but things are starting to change and we have a few clues:
The CHAMP1 gene normally makes CHAMP1 protein in many types of cells throughout life; so CHAMP1 is likely to be important in many ways.
CHAMP1 protein normally works on the biological processes that make cells increase in number (proliferate) in the embryo; so CHAMP1 mutations might make it harder for the embryo to make the right numbers of cells, with knock-on effects in the child.
CHAMP1 protein normally attaches itself to chromosomes where it might be controlling the actions of other genes, even in mature cells that are no longer proliferating; so CHAMP1 mutations might have collateral effects on the actions of other genes throughout life.
We are now starting to investigate these possibilities. Better knowledge should help us find new ways of helping your “CHAMP1ONS” overcome the challenges they face throughout life.