Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig’s Disease is a severe rapidly progressive and fatal disease. It is a neurodegenerative disease in which motor nerves in the spinal cord die, causing the sufferer to become gradually paralyzed to the point of death over a brief 2 or 3 year time frame.
For years the cause of ALS has eluded scientists, until now.
A research group at Northwestern Medicine has just reported they have determined the cause of ALS and have published the results in the journal Nature.
The researchers determined the problem of ALS lies in the cellular pathway by which proteins in nerve cells are recycled.
Normally proteins are built to perform various cellular tasks including machinery to move components around the cell. As these proteins become damaged through wear and tear, they are recycled.
In ALS it now appears, the system used to perform that recycling is impaired. The defect appears to be in a newly discovered protein called ubiquilin2 that normally chaperones the defective proteins for recycling into proteosomes, a cellular recycling center. Instead, the defective proteins as well as ubiquilin2 accumulate within the cells. The collective material bogs down all cellular activity eventually causing them to die. These reams of protein skeins are observed in nerve cells from ALS patients.
In the study, it was demonstrated that ubiquilin2 mutations occur in the rare familiar or inherited form of ALS, but not in sporadic cases which make up the majority. The protein was however also seen in the protein aggregates in sporadic ALS
It is still unclear why ubiquilin2 fails to perform appropriately in sporadic ALS, however it now becomes a very important target for future drugs that might be able to treat disease. Right now there is no effective treatment.
Furthermore failure of protein recycling likely underlies other more common neurodegenrative diseases like Alzheimer’s where proteins also accumulate in nerve cells causing them to die.
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