How Do Molecular Mechanisms Impact Pediatric Diseases?
In pediatrics, several conditions are caused by genetic mutations or abnormalities in molecular pathways. For example, in cystic fibrosis, mutations in the CFTR gene disrupt chloride ion transport, leading to thick mucus accumulation in the lungs and other organs. Similarly, in sickle cell disease, a single point mutation in the HBB gene results in abnormal hemoglobin, causing red blood cells to assume a sickle shape and impairing blood flow.
