What are the Clinical Implications of Lysyl Oxidase Dysfunction?
Mutations or alterations in the LOX gene can lead to various clinical conditions. For instance, Menkes disease is a genetic disorder characterized by defective copper metabolism, leading to impaired LOX activity and resulting in brittle hair, seizures, and connective tissue abnormalities. Elevated LOX activity has also been linked to cancer progression, as the enzyme can modify the ECM to promote tumor invasion and metastasis.
