ALS is not a very common disease, probably due to its complexity, but has affected many lives nonetheless over the years. Families have seen their kin come and go as the disease vastly destroys their system. It is hard to see people go as fast as they do with ALS (usually only living between 2-3 years after diagnosis) and it is no surprise why after looking at the biology of things.
ALS begins with muscle weakness, stiffness, tightness, or spastic activity, which is occurring due to the breaking down and dying of motor neurons. When diagnosed, signs of upper and lower motor neuron degeneration begin to show, and an MRI is used to follow the progression of the disease. There are two types of ALS: Sporadic and familial. The sporadic form of ALS makes up roughly 90% of all cases, and is caused randomly. The familial form for ALS is passed on genetically, usually with a 50% chance. A reason that sporadic may be more prevalent than familial is the fact that after diagnosis, not many people try to start a family life, and those that are diagnosed and pass on the trait, probably already had families before diagnosis.
ALS is caused by a build up of reactive oxygen species (ROS) in the neuron, which ends up killing the neuron due to its toxicity. The reason for this buildup is due to several genetic mutations within the system. The most common of mutations resides on TDP43, which regulates RNA splicing. this mutation is in roughly 97% of all ALS cases, and is also found in frontotemporal dementia patients (FTD). This might explain that when the disease progresses, it no longer only affects motor neurons, but neurons involved with cognition and memory as well.
ALS has recently been focused on more and paid attention to due to the popularity of the ALS ice bucket challenge. In this challenge, a bucket of ice water is simply poured over each contestant, and then the contestant challenges another individual, or group of individuals, to do the same. ALS’s popularity has since grown, and funding has been on the rise. The lack of funding that has been shown for research in the past is probably due to the lack of affected population for the disease (2 cases per 100,000 people). Since then, situational awareness for ALS has significantly improved, and diagnosed individuals are living longer and healthier lives.
It is sad to see such a harsh disease affect people that we know and love, but it is really inspiring to see other individuals step up and support, especially when they have not been affected at all. Although research in the field of ALS is difficult, due to it being genetically based, I believe that the surge in research will at the very least provide better care for diagnosed individuals and prolong their life, while also driving to find a cure.
RESOURCES:
https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet%20
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404432/pdf/13311_2015_Article_338.pdf
