Less than three months after the Ice Bucket Challenge raised unprecedented amounts of money for research into amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, researchers have announced a breakthrough. Scientists are saying they have new insight into possible causes of the condition, and may have a clearer understanding than ever before of what is responsible for the degenerative disease. Previously, it was recognized that malfunctioning neurofilaments in the motor neurons did not properly connect these neurons to the muscles, so they muscles could not respond to the impulses meant to move them. but the precise reason for the malfunction was a mystery. Now it is believed that the malfunction arises proteins that are supposed to protect the neurons are unstable, often due to a genetic mutation.
Lou Gehrig’s disease affects an estimated 30,000 Americans. People with the condition first experience weakness in the extremities, and as the disease progresses—as the superoxide dismutase proteins start to weaken and break down—more and more muscles start to atrophy. It starts in the arms and legs where the motor neurons are largest, and eventually the muscles used for breathing are affected and suffocation ensues.
Different forms of the disease have longer or shorter prognoses, but ALS is currently a terminal condition with no known cure. However, with a new understanding of what causes the motor neurons to fail, it may be possible to develop better treatments.
Right now, patients with ALS are given palliative care to alleviate the pain and discomfort, and assistive technology is used to help them maintain independence. However, some stroke drugs are being investigated as ways to slow the progress of the disease and possible reverse some of the damage. Moreover, since the SOD protein is dependent on copper, the metal is being looked at as a potential treatment, with a possibility that it will help maintain the proteins. Copper is normally toxic, so ways must be found to administer it in a way that it is useful, without it poisoning the patient. Stem cell research using bone marrow is also being undertaken, with clinical trials showing some success in regrowing the motor neurons.