Friday, November 14, 2014

Genotype found in 30% of ALS Patients Speeds up Disease Progression

Penn State College of Medicine researchers have recently discovered that there is a gene variant that is found in 1/3 of ALS patients which leads to a faster disease progression. Amyotrophic lateral disease, ALS is a degenerative disease in the brain, spinal cord and motor cortex. These researchers also discovered that there is a relationship between ALS and an excess of iron. They discovered this when they found that 1/3 of ALS patients contained a gene variant of HFE which is associated with iron overload. 


The experiment consisted of comparing regular mice used in ALS research with crossbred mice containing the HFE gene variant. There were major differences between the two groups when it came to the tests of the forelimbs and hindlimb grip strength. The crossbred mice did significantly worse on this compared to the regular mice and their life span was four percent shorter. This proved that when the HFE gene is present the disease got worse more quickly. 

The lead researcher of this experiment found that the HFE gene variant caused the disease to sped up more quickly in the female mice cause them to die quicker than the male. This was fairly interesting because on average males with ALS die faster than females with ALS. The crossbred mice also showed more oxidative stress and microglial activation and these cells usually help repair the body but an excess of them can cause harm. 

The conclusion is that when the HFE gene variant is present it makes matters much worse. This conclusion can lead to more treatments. Separating patients who have ALS with the HFE gene variants from patients who have just ALS can lead to treatments and medicines that can treat each one separately and benefit everyone.

Main Article:http://www.sciencedaily.com/releases/2014/11/141113085114.htm

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