New genetic mutation could cause progressive motor function loss
Neuropathy is a disease that damages the peripheral nervous system. This means that patients can develop viral infections, diabetes or even rare genetic conditions as a result. People with neuropathy experience sensory and motor reduction, which causes numbness, muscle weakness and pain, among other symptoms.
“This case superbly illustrates how the intensive study of children with very rare neurological disorders can lead quickly to a deep knowledge of a specific genetic condition, as well as uncover mysteries of the nervous system relevant to a wide spectrum of disorders,” Dr. Walter Koroshetz, director of the NIH’s National Institute of Neurological Disorders and Stroke (NINDS), said.
Researchers found that a genetic mutation with the KCC3 protein causes swelling in the neurons. When this happens, patients’ nerves become damaged.
“We were able to identify what this particular mutation does, so we have a specific target for therapeutic development,” Dr. Carsten Bonnemann, senior investigator in the NINDS Neuromuscular and Neurogenetic Disorders of Childhood Section and senior author of the paper, said. “Because furosemide inhibits the function of the transporter that is improperly activated in our patient, we may one day be able to use drugs like furosemide to intervene in the progression of neuropathies caused by this type of mutation.”