Researchers decrypt neuropathy ALS

Scientists identify cause of amyotrophic lateral sclerosis

22.08.2011

US scientists have decrypted the cause of the nervous system disease Amyotrophic Lateral Sclerosis (ALS). Accordingly, a defective repair of proteins in the brain and spinal cord causes the extremely rare degenerative nerve disease.

Around 350,000 people worldwide suffer from ALS, with around 50 percent of patients dying in the first three years after onset of the disease. Despite decades of research, there is no prospect of cure and the causes of the disease remain unclear. Now, however, Teepu Siddique of Northwestern University in Chicago and colleagues have demonstrated in their studies a defective repair mechanism of the proteins in the spinal cord and brain, which causes damage to the nerve cells. If too many nerve cells are damaged, the disease breaks out. As the US researchers in the journal „Nature“ The new findings could also help significantly improve the treatment options for ALS in the future.

Disturbed protein repair mechanism Cause of the disease
The research team at Northwestern University in Chicago has identified a defective repair of protein in the spinal cord and brain as a cause of the rare but extremely serious nerve disease ALS in evaluating the medical data from numerous ALS patients. The molecule, Ubiquilin2, which is normally responsible for the utilization of damaged or misfolded proteins in the brain and spinal cord, does not function properly in ALS patients, explained Siddique and colleagues. In this way, damaged proteins and ubiquilin2 become lodged in the nerve cells and permanently kill the motor nerve cells and nerve cells of the cerebral cortex. As a result, those affected suffer from serious health problems, such as progressive muscle paralysis, muscle atrophy, corresponding movement restrictions, difficulty in swallowing speech and breathing, and, possibly, a type of dementia. As a living example of the severity of the disease is the astrophysicist Steven Hawking probably the most well-known ALS patient. Hawking has been confined to a wheelchair since the late 1960s. The world-renowned astrophysicist uses a voice computer to communicate.

Amyotrophic lateral sclerosis can be hereditary and spontaneous
Although research into ALS has been in full swing for decades, no groundbreaking findings on the causes or possible treatments have yet been presented. It was known that the disease can be at least partially hereditary, but this only applies to about ten percent of patients, the US researchers report. In around 90 percent of ALS patients, on the other hand, the nerve disease was spontaneous, without any apparent cause. The reason, however, the US researchers have now apparently come on the track. Both the ALS patients, whose disease was spontaneous, and those who came from a family of 19 ALS patients and who are said to have hereditary disease outbreak, disrupted the repair of protein in the spinal cord and brain, report the US researchers. However, when evaluating the medical data from five generations of the family with the 19 ALS patients, the scientists found that the repair mechanism of hereditary diseases is caused by mutations in the ubiquilin2 gene. The gene determines the structure of ubiquilin2 and thus has a significant impact on the utilization of damaged proteins.

New findings could improve the treatment of ALS
Since little was known about the causes of the nerve disease, doctors have hardly any approaches for successful treatment. Only a relief of the symptoms could be promised. In general, amyotrophic lateral sclerosis is still considered incurable. However, the US researchers led by study director Siddique, who has been dealing with amyotrophic lateral sclerosis for more than 25 years, with their new findings „a whole new field to find an effective treatment for ALS,“ opened. The scientists assume that drugs can soon be developed that specifically regulate or improve the repair mechanism of the protein. This could possibly avoid the particularly serious consequences of the nervous condition, explained Siddique. In addition, current research may also be beneficial in the treatment of dementia and Alzheimer's disease, as protein deposition in the brain is also considered a major cause in these neurodegenerative diseases. (Fp)

Also read:
Parkinson's: Hundreds of thousands of Germans affected
Rare diseases: doctors inform
Center for Rare Diseases opened

Image: Martin Gapa