To test their hypothesis, the researchers studied two types of experimental mice - one group lacked the gene for the
Hmox enzyme and were unable to synthesize carbon monoxide.
They identified variants in two genes, TGFB2 and
HMOX that appear to contribute to the development of CM in Angolan children.
ERT: Enzyme replacement therapy FD: Fabry disease GB3: Globotriaosylceramide
HMOX: Heme oxygenase ROS: Reactive oxygen species TAS: Total antioxidant status UGT1A1: Bilirubin UDP-glucuronosyl transferase.
Stress signaling on downstream factors, such as heme oxygenases (
HMOX) and NADPH quinone oxidoreductase 1 (NQO1), was at least in part significantly increased (Figure 4(a)).