Amyotrophic
lateral sclerosis (ALS) is a neurodegenerative condition that results in
destruction to the motor neurons of the human body; and thus, loss of proper
motor control and functionality. Death of those with this disease commonly
occurs due to respiratory failure upon inability to control the muscles that regulate
breathing. There are approximately 12,000 Americans that are affected by this
disease.
Researchers at the
Penn State College of Medicine determined that there existed an association
between excess iron accumulation in the brain and ALS. This was aided primarily
by the observation that there was a variant of the HFE gene (H63D HFE), linked
to iron overload disease, in 30 percent of the ALS patients within their
clinic.
The researchers
executed a study with mice, intending to determine the effect of carrying the
HFE gene variant on the progression of ALS. Mice with the gene variant were
crossbred with standard mice typically used for ALS research. Upon examination
of the mice, they found that the progression of the disease occurred at a
faster rate in those mice that carried the gene variant. For the crossbred
mice, lifespan was reduced by 4 percent. These mice also performed more poorly
than the normal mice on testing used to evaluate grip strength of the forelimbs
and hindlimbs, indicative of reduced control over motor functions. Increased
oxidative stress was also noted for those mice with the gene variant, as well
as, increased activation of microglial cells. In a neurodegenerative condition
like ALS these microglial cells that conventionally aid bodily repair, can
actually result in harmful inflammation. Neurofilaments, which transport
nutrients through nerve cells, were also found to be more damaged in mice with
the gene variant.
The
identification of a gene variant, H63D HFE, in individuals with an accelerated
form of the ALS disease has implications to research oriented in treatment for
patients. Treatment that may have previously appeared ineffective may actually
prove to be efficacious in new studies that differentiate individuals based on
whether they have the normal or accelerated form of the disease. Additionally,
researchers may be able to focus on determining treatments that will be more
effective in populations of patients with the gene variant specifically.
The
determination of a link between the H63D HFE gene variant and an accelerated
form of the ALS disease is fascinating. A neurodegenerative disease such as ALS
that impairs motor function is very debilitating and unfortunate, especially
considering the likely death by respiratory failure. This finding may support
research in developing differentiated treatments for those with either the
normal or accelerated version of the disease, which may prove to be more
efficacious. I also found it very interesting that the disease acceleration was
so well modeled in the mice. Hopefully this finding aids future ALS research.
Link to Article:
http://www.medicalnewstoday.com/releases/285478.php
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