What are the clinical implications of P-type ATPases?
Dysfunction or mutations in P-type ATPases can lead to various diseases. For example, mutations in the Na+/K+-ATPase are associated with conditions like familial hemiplegic migraine and rapid-onset dystonia-parkinsonism. Similarly, defects in Ca2+-ATPases can result in disorders such as Brody disease, characterized by muscle stiffness and impaired relaxation. Understanding the structure and function of P-type ATPases can aid in the development of targeted therapies for these conditions.
