Amyotrophic lateral sclerosis, more commonly referred to as ALS or Lou Gehrig’s disease was a relatively unknown topic to me until this week. ALS is a neurodegenerative disease whose end is the deterioration of motor neurons, causing loss of function to parts of the body. That’s the bigger picture anyway; there are a variety of mechanisms taking place in the pathology of this disease and in conjunction they create an extremely debilitating outcome. The main ALS story is an imbalance of calcium in different areas of the cell and the outcomes that this leads to. Namely the cytosol, mitochondria, and endoplasmic reticulum were discussed this week. The imbalance of calcium leads to a myriad of inconvenient outcomes, including protein misfolding and accumulation, as well as oxidative stress.
The symptoms of this disease are quite extensive and can make life extremely difficult for patients. Being that motor neurons are affected, bodily motion becomes exceedingly more challenging as the disease progresses. In the early stages muscle weakness and stiffness are common, accompanied by fatigue, poor balance, and other symptoms. The middle stage is characterized by some muscle paralysis and further weakening of others, as well as trouble swallowing and weakening of respiratory muscles. Late stages are characterized by paralysis of most voluntary muscles, extreme difficulty breathing, very limited mobility, impaired speech, and inability to eat or drink through the mouth. Since the respiratory system is so severely affected, this usually leads to death due to inability to properly breathe or swallow.
The intriguing part about this disease is that no one really knows how it is caused. Only about 10% of cases are hereditary, the rest are sporadic. There is no way of reversing the disease, but the drug riluzole was developed which helps counteract the disease. Riluzole decreases glutamate release in the brain which decreases motor neuron death, thereby extending the life of the remaining functional neurons.
This disease was made famous by the baseball player Lou Gehrig, hence the name. In recent years however, there has been some controversy over this, as it turns out that Gehrig might not have had ALS at all. In fact, many professional athletes may have been falsely diagnosed with ALS in the past, when they actually had a completely different disease. Chronic traumatic encephalopathy (CTE) is characterized by the same symptoms as ALS, but is caused by multiple brain traumas or concussions. Before CTE was discovered, athletes that received many concussions in their career were diagnosed with ALS. It is hypothesized that CTE might be under the “ALS umbrella” of disorders, as it is characterized by the build up of the same proteins in cells.
ALS is a nasty disease, no question about it. The real question is, what more can be done? In our discussion this week our professor brought up a good point: Do people really know that much about ALS? Do you think if people knew more about it, more money would be given towards research for a cure? Personally I didn’t know very much at all about ALS before this week, and I think that if people were more aware about how horrible and debilitating the disease can be, more work would be done towards finding a cure. Hopefully our blogs from this week will spread some awareness and make a small impact in the path towards a cure.
