Thursday, November 13, 2014

A Certain Gene Increases the Progression of ALS

        Amoytrophic lateral sclerosis is a disease that involves the degeneration of the lower and upper motor neurons of the brainstem, resulting in those with the disease to loss of muscle control and ultimately death. One third of ALS patients are believed to have a gene that causes a faster progression of the disease. When mice were given this genetic variant, the disease progressed faster and the mice died sooner than the mice that did not have the genetic variant.
       
        About 10 years ago, researchers at Penn State found a link between the amount of iron accumulation in the brain in patients with nuerodegenerative disorders (Parkinson's and Alzheimer's disease). These researchers also found that about of third of their ALS patients had an accumulation of iron and had a genetic variant, HFE, that is associated with iron overdose diseases. In order to test the relationship between iron accumulation and the HFE variant, researchers crossbred mice with the HFE gene and standard mice.
This picture shows the difference between normal nerves and how the nerve fibers start to deteriorate and muscles weaken in those who have ALS.

        When studying the mice, James Connor, vice chair of neurosurgery research and director for the Center for Aging and Neurodegenerative Diseases, and his team found that the crossbred mice performed worse on test for hind limb and forelimb strength and had a 4% shorter life span. Their observations led them to conclude that when a mouse with the HFE variant was infected with ALS, the disease progressed much more rapidly than in the mice that did not have the variant. The grad student that was running the study, Wint Nandar, also realized that the females' disease progression was much faster in females with the variant than in males; however, normally, males with the disease would die faster than females.
 
        The researchers also found that the infected mice showed a greater degree of oxidative stress and microglial activation. Microglial cells are normally responsible for repairing the body, but when they are over-activated, they can cause inflammation, a factor that does not help with the progression of the disease. The mice with the genetic variant were also seen to have a disruption of the nuerofilaments, fibers that transport nutrients through the nerve cells, another reason why the disease can progress faster when HFE is present.

          I think that this a very important study that can be very valuable to those that are trying to find a cure for ALS, or some type of treatment. Knowing the genetic background an individuals can help researchers determine why some of their products work for some patients and not others. ALS is a very detrimental disease and anything that is going to hep researchers get a better understanding of the disease would be extremely beneficial.

Original Article: Genotype found in 30 percent of ALS patients speeds up disease progression

No comments:

Post a Comment