Question

For example, the skin of people with epidermolysis bullosa simplex is very susceptible to mechanical injury; people with this disorder have mutations in their _______ genes, which code for the intermediate filament found in epithelial cells.

Answer 1

Epidermolysis bullosa simplex is caused by mutations in keratin genes; keratin is an intermediate filament in epithelial cells. The mutated genes affect the structural support of the skin, leading to susceptibility to mechanical injury. Desmosomes, which are found in muscle cells and skin cells, are also associated with keratin.

Step-by-step explanation:

People with epidermolysis bullosa simplex have mutations in their keratin genes, which code for the intermediate filament found in epithelial cells. This condition makes the skin very susceptible to mechanical injury. Intermediate filaments such as keratin provide structural support in epithelial cells. When these genes are mutated, the structural integrity of the skin cells is compromised, leading to the symptoms of epidermolysis bullosa simplex. In addition, desmosomes, which are structures that help to hold cells together, particularly in tissues undergoing strong mechanical stress, are also made up of proteins that interact with intermediate filaments like keratin. You would predominantly find desmosomes in muscle cells and skin cells that require both strength and flexibility.