What are the Typical Consequences of Mutations in Keratins and Their

Question

What are the typical consequences of mutations in keratins and their associated proteins?
A) Neurodegeneration as a result of interference with normal axonal transport.
B) Muscle development defects as a result of sarcomere disorganization.
C) Skeletal and cardiac abnormalities as a result of a weakened nuclear envelope.
D) Cornea disorders as a result of cell rupture from mechanical trauma.
E) Developmental defects as a result of abnormal signaling related to the primary cilia.

Accepted Answer

Cell rupture caused by mechanical trauma, and disorganization or clumping of the keratin filaments, is the hallmark of diseases (such as cornea diseases and skin blistering) caused by mutations in keratins and their associated proteins.