What Are Some Common Diseases Linked to Genetic Mutations?
Several diseases are linked to genetic mutations, with distinct histological features. For example:
Cystic Fibrosis: Caused by mutations in the CFTR gene, leading to thick mucus accumulation in lungs and digestive organs, observable via histology as glandular obstruction and inflammation. Huntington's Disease: Characterized by neuronal degeneration due to CAG repeat expansions in the HTT gene. Histological studies show brain atrophy and neuronal loss. Sickle Cell Anemia: Results from a point mutation in the HBB gene, causing red blood cells to assume a sickle shape, which is easily identifiable under a microscope.
