Copper Deficiency a Possible Culprit in Charcot-Marie-Tooth Disease

According to a recent study, low copper levels could have a hand in leading to Charcot-Marie-Tooth disease, Charcot-Marie-Tooth News reports.

Charcot-Marie-Tooth disease (CMT) is a neurological disorder that affects the peripheral nerves, which lie outside of the brain and spinal cord. It is caused by mutations in genes that communicate sensory information to the muscles. Different genes mutate depending on the particular type of CMT disease. But in all cases, the mutations cause peripheral nerves to slowly degenerate, which inhibits communication to muscles. Symptoms usually include weakness in lower leg and foot muscles, leg and foot deformities, weakness in the hands, and difficulty walking.

To learn more about CMT, click here.

During their study, researchers at the University of Iowa’s Carver College of Medicine discovered mutations in the same gene of two unrelated patients with CMT type 4.

CMT type 4 (CMT4) is a rare subtype of CMT that damages the myelin sheath. The myelin sheath is a layer surrounding peripheral nerves connecting the brain and spinal cord to motor and sensory muscles. CMT4 causes weakness, usually in muscles far from the center of the body. Other symptoms include cataracts and deafness. In general, CMT4 tends to be more severe than other CMT subtypes.

The mutated gene that researchers found in both CMT4 patients is called SCO2. The SCO2 gene is a copper transporter, which is a protein that picks up copper ions. It then moves the ions to an enzyme that helps produce energy.

Copper plays a key role in many cellular functions. Other than helping the body make energy, it also helps make red blood cells and keeps the immune system healthy. It also helps to form collagen (a key part of bones), can act as an antioxidant, and helps the body absorb iron. Low levels of copper in the body is already linked to other neurodegenerative diseases.

Mutations in the SCO2 gene leads to intense copper deficiency in body tissues. According to the researchers, another gene (ATP7A) whose mutation causes CMT is also a copper transporter. Since mutations in both lead to CMT, the researchers argue that their findings show how copper metabolism is important in CMT disease.

The report is significant because it’s the first showcase of CMT patients with SCO2 mutations associated with decreased copper levels. Hopefully this study will prompt more research into the importance of normal copper levels in the peripheral nerves, which may lead to new CMT treatments.

Do you or a loved one have a rare disease? Share your story with us at Patient Worthy!

Share this post

Share on facebook
Share on google
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email
Close Menu