Wednesday, April 24, 2013

A new biomarker in detecting Lou Gehrig's disease and dementia

Researchers at the Mayo Clinic have discovered an abnormal protein which could prove to be a useful biomarker in the diagnosing of ALS and frontotemporal dementia. Researchers have called the  protein pathology C9RANT and have developed an antibody that can detect the protein which is present in patients having the mutated C9ORF72 gene. The C9ORF72 mutation is the most common genetic cause of dementia and amyotrophic lateral sclerosis. The protein is unique in that it is found throughout the central nervous system in patients with these two diseases, but is not present in patients suffering other diseases. It is hoped that a spinal tap could be used to obtain test results in the future. This marks an important discovery for the neurological community.

ALS, Amyotrophic lateral sclerosis, better known as Lou Gehrig’s disease is the most common of the five motor neuron diseases.  Most people die from ALS due to complete respiratory failure with 4% of the population surviving longer than 10 years after onset. Stephen Hawking is perhaps the most widely known patient suffering from ALS.

Frontotemporal dementia, is the deterioration in the frontal lobe of the brain over time. This disease is second only to Alzheimer’s in prevalence, and  symptoms progress steadily until patients require twenty-four hour care. Patients suffering from the disease last typically 2-10 years. The new biomarker hopefully can provide early warning and therapies could be designed to break up the accumulation of protein before the two diseases take hold.

http://www.medicalnewstoday.com/releases/256309.php

1 comment:

  1. The identification of the C9ORF72 would certianly make for much better proventitive care for these very serious diseases. But, I wonder how early this can be tested for? It the lack of C9ORF72 somthing that is always displayed in people who will be affected or is it something that appears more closly to the onset of these diseases? Either way it is a significant medical breakthough.

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