ALS: New Findings

Amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig's disease is the most common motor neuron disease. A devastating illness, ALS occurs when specific nerve cells in the brain and spinal cord that control voluntary movement gradually degenerate causing gradual paralysis and eventually death. Mental faculties remain intact, and this devastating illness can strike anyone. The average life expectancy is two to five years, although it is known to be more rapidly progressive in some. A percentage live past the five years mostly due to Rilutek ® the first drug known to slow the degeneration of ALS. Although no cure exists, researchers at the University of Pennsylvania School of Medicine have discovered the major disease protein for two neurodegenerative disorders.

In a news release in October 2006, the commonality was found in a type of frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS) , also called Lou Gehrig's disease. TDP-43 is believed to be a misfolded disease protein which only appears to affect the central nervous system. In post-mortem studies, this protein was found to have accumulated in the hippocampus, neocortex, and spinal cord. In neuro-degenerative diseases misfolded proteins are a commonly recognized mechanism .

"The misfolded proteins are tagged for recycling by the cell with another protein called ubiquitin. However, in neurodegenerative diseases these tagged proteins aggregate in the neurons of the brain and spinal cord and act like toxic waste dumps that become progressively more widespread and toxic. Many misfolded disease proteins have been identified and targeted for drug development in other neuro-degenerative disorders; however, identifying the disease protein in the most common form of FTD and ALS remained elusive.

Clinically there's overlap in these two disorders, so it was very tantalizing to see if there was anything to link them biochemically," says Virginia Lee, PhD, Director of the Center for Neurodegenerative Disease Research at Penn. Indeed, this overlap suggested different manifestations of the same disorder."

The study was widespread resulting in conclusive results. Tissue samples from both disorders revealed TDP-43 being present in every case studied. These findings pave the way for drug development in hopes of finding a cure. The hope for treatment also exists in Stem Cell Research.

For more information on ALS visit ALS Association and the

ALS Society of Canada.