Final answer:
Proteins altered by genetic mutations in epidermolysis bullosa include keratins, collagen, laminin, and other critical skin proteins, leading to weakened skin integrity and blistering. Other diseases resulting from mutations affecting protein structure and expression include Lowe disease and sickle cell disease.
Step-by-step explanation:
The proteins that have been shown to be altered by genetic mutations in patients who suffer from epidermolysis bullosa include different types of keratins, collagen, laminin, and other proteins that are essential for skin integrity and function. Specifically, mutations in genes encoding keratin (KRT5 or KRT14), laminin (LAMA3, LAMB3, LAMC2), type VII collagen (COL7A1), and other proteins in the hemidesmosomes and basement membrane zone can result in various forms of epidermolysis bullosa, a group of disorders characterized by skin fragility and blistering. These mutations can alter the structure and stability of the proteins, leading to skin layers that do not adhere properly, causing blisters and erosion with minor trauma.
Genetic mutations affecting protein structure and function are also seen in other diseases: for instance, a genetic mutation preventing the expression of a particular enzyme in Lowe disease leads to ocular, renal, and neurological symptoms. Similarly, mutations can directly affect protein shape and function as seen in sickle cell disease, where a single amino acid change affects hemoglobin, and in Severe Combined Immunodeficiency (SCID), where essential white blood cells are dysfunctional due to the lack of a specific protein.