als essay
Sample als essay
Amyotrophic Lateral Syndrome (ALS)
Amyotrophic Lateral Syndrome (ALS) affects motor function and skeletal muscle nerve cells. Individuals suffering from ALS have degenerative nerves that become more fragile over time. These nerves are vital for carrying messages between the brain, spine, and body. In order to function properly, the nerves eventually stop working. The body becomes paralyzed if the nerve signals are not received. (Farley 2004) ALS is a condition that affects more than 30,000 Americans. Each year, there are almost 6,000 new cases. A person with ALS can expect to live between 2 and 5 years after diagnosis. Genetics is the cause of ALS. The offspring of someone with ALS have a 50% chance of getting it. Initial symptoms include slurred speech, muscle weakness, stiffness or stiffness, muscle cramping, twitching, and cramping. The patient should seek ALS testing if the symptoms persist.
Amyotrophic Lateral Sclerosis or ALS is also known under the name Lou Gehrig’s Disease. Lou Gehrig was a famed major league baseball star who was diagnosed while playing with the New York Yankees. He was forced out of his career in 1939 to retire early and died in 41. Lou Gehrig is credited with bringing this disease to our attention. Lou Gehrig and the family of the New York Yankees are an inspiration to baseball fans and players alike. Three different websites sponsoring ALS are examined and critiqued in this paper. A review of the current literature is also included to examine and discuss the genetic aspects of ALS.
ALS is a deadly disease that has no cure. Al-Chalabi 2017 estimates that there are approximately three to five cases for every 100,000 people. As ALS paralyzes most parts of the body, movement and function slowly deteriorate. The disease initially attacks the brain and spinal cord (Al-Chalabi 2017,). The disease also causes ALS to make it difficult for people to communicate (Revell). Paralysis spreads rapidly throughout the body and eventually the respiratory system fails. ALS patients only have a few years left to live. Although there are two main drugs approved by the FDA to slow the progression of the disease (Hirschler), there is currently no cure for ALS. The epidemiologic causes have been linked to familial as well sporadic traits that can be caused by genetic or non-genetic inheritance, as well environmental factors (AlChalabi 2017,). AI technology has made it possible to identify genetic causes for ALS. It has also helped in the development and approval of drugs that can be used to prevent or cure it (Hirschler). The eyes and muscles that control them are rarely affected by ALS. However, they can be connected to modern technology that was created to help those suffering from ALS communicate with each other. There is currently no cure for ALS. However, research has shown that there are multiple genetic causes of the disease. These genes have been linked to ALS. Technology has been developed to help slow the progression of ALS.
Amyotrophic Lateral Syndrome (also known as Lou Gehrig’s Disease and Amyotrophic Lateral Scleroderma) is a debilitating condition that affects different parts of the body. However, most cases start in the limbs. The function of the mouth can be affected by ALS. This includes eating, swallowing, and talking. It can slow down the effects on the movement of the eyes and the sphincter muscles. This could be caused by increased behavior changes that can lead to paralysis and dementia. It can also occur due to sporadic or familial causes.
Al-Chalabi 2017 explains that ALS can either be classified as sporadic/family-related. About 90% of cases of ALS occur randomly and are therefore found in patients who develop the disease themselves (AlChalabi 2017). About 10% of cases of ALS can be attributed as familial, and are inherited from relatives who passed the genes to their children (Bennett 2018). While sporadic ALS tends to affect males more, familial ALS can be affected equally by both genders (Al Chaabi 2017). Although ALS affects most people in their 50s, familial ALS has been reported in teens (Alchabi 2017,). Both familial ALS (sporadic) and familial ALS (family ALS) can affect different people in the world. They are both fatal and can be linked to many genes.
Both familial and sporadic cases are affected by ALS. Sporadic ALS is more likely to display superoxide dismutase 1, while sporadic ALS has a higher frequency of cases with C9ORF72 (Al Chaabi 2017). Although these genes are linked to familial and sporadic ALS, researchers have difficulty identifying the exact gene responsible for the onset of the condition. Al-Chalabi 2017, for example, has identified over 100 and 20 genetic variants that have been associated with the development of ALS. Al-Chalabi 2017 describes how researchers typically classify ALS genes into three groups. They relate to protein homeostasis (RNA homeostasis trafficking and cytoskeletal dynamic), RNA homeostasis (protein homeostasis), and RNA trafficking (RNA homeostasis). Although researchers are analyzing the three groups, they find many distinctive characteristics that can be grouped together and encourage a variety of analyses for each group. Al-Chalabi 2017: Protein homeostasis is the most popular group. This is because the accumulation of clustered proteins in cells and the resulting deficiencies can be linked to mutations within the SOD1 gene. The SOD1 gene is the first to be linked to ALS. Researchers can therefore continue to study the gene more frequently than with other genes. TDP-43, which was the first to be identified in the body as an RNA binding protein, is frequently linked to the grouping of RNA trafficking and RNA homeostasis. C9ORF72 however is the most commonly mutated gene (Al–Chalabi 2017). Al-Chalabi 2017 says that researchers are yet to discover why RNA binding protein mutations cause ALS. The ALS genes were discovered by Al-Chalabi 2017 when three genes relating to cytoskeletal dynamics, namely DCTN1, PFN1 & TUBA4A were identified. Although multiple genes can be grouped into different types, sporadic ALS can also be attributed to environmental factors.
Because sporadic ALS can occur at random times, it can be difficult to establish a causal link between the disease and certain environmental factors. Because of the high mortality rate in ALS patients, it can be difficult to identify the cause and find someone who is early stage. Multiple studies have linked smoking and exposure to harmful metals, electromagnetic fields, and pesticides to an increase in the risk of ALS. Researchers have also looked into the possibility of ALS in retroviruses. However, only K has been identified by researchers (AlChalabi 2017). Research has also shown that trauma could be linked to ALS. Researchers looked into various injuries and fractures that might have caused the disease. These traumatic events have been linked with TDP-43, an RNA binding protein (AlChalabi 2017). These various environmental factors often affect the body’s function and can lead to sporadic ALS. Although the disease is not common, individuals can try to avoid certain risk factors. Although the causes of ALS are different, TDP-43 can link ALS to both environmental and gene factors. Although there are different types of ALS and methods of acquiring it, TDP43’s common presence should be investigated. It connects to all forms of ALS as well as each cause. While research involving TDP-43, an RNA binding protein, is currently underway as scientists attempt to identify a cause for the disease. Other researchers are also using AI technology to explore the causes and possible cures.
There is currently no cure. AI research has made it possible to accelerate the process.
Richard Mead, an English researcher found that AI made it easier to pinpoint the cause and cure of ALS. However, he did identify one proposal from AI which could stop the progression or death of motor neuron cells (Hirschler 2017, 2017). ). Even though Mead wasn’t able to find a cure or cause, his findings might help slow down the disease’s progression.
Watson, a supercomputer located at the Barrow Neurological Institute, is powered by IBM and has been used to identify five genes implicated in ALS (Hirschler 2017). Watson, a supercomputer at Barrow Neurological Institute powered by IBM was used to identify five genes that are involved in ALS. Watson didn’t discover a cure. Human research however has shown potential ways to slow it down.
The researchers conducted an experiment with human researchers to see if adding regulatory cells could have any effect on ALS patients. They were at different stages of their ALS (Appel 2018). Researchers then took a sample from each patient’s white blood cells and added four doses of regulatory cells to it over the next two months. This was done in the advanced and final stages of the disease. The development and progression of ALS were slowed by a regulatory T cell (Appel 2018).
Human researchers recently discovered a therapeutic polymerase that can be used to attack TDP-43. TDP-43, which is a common gene in familial and sporadic ALS, has been searched for by researchers to block the development of neurodegeneration and disease related to TDP-43. Researchers found that PAR (also known as tankyrase) was downregulated by the researchers, which is essential for the growth and collection of TDP-43 stress granules. “Stress granule location initially protects TDP43 from disease-associated phosphorylation. After long-term stress, however, stress granules disintegrate, leaving behind TDP43-phosphorylated aggregations. The researchers were able to block PAR which stopped the formation of TDP43. It also didn’t affect the accumulation and function of stress granules. This could help with diseases like TDP-43. Unfortunately, the treatments available are not affordable and are difficult to access for those who are affected by the disease.
ALS is a progressive condition that can’t be cured. The economic consequences of ALS have significant impacts on patients and their families. Patients and their support systems are greatly affected by the economic ramifications. Gladman 2015) The national cost for ALS treatment was $279-472million in 2015.
Modern research has not connected the delayed effects of ALS on eye movement. Despite the fact the brain’s lower, upper, and central neurons have failed, the weakness of the limbs, spinal cords, and limbs has been examined. They attempted to link satellite cells to invigorate the delayed effects of ALS. Satellite cells did not appear to be responsible for the delayed effects of ALS on the movement and function of the eyelids. Ocular movements can be controlled intrinsically. It is important to investigate the cause of delayed eye movement in ALS patients. Research results have not found any biological reason that would explain the delay in movement. These extraocular muscles, however, allow people with ALS to communicate with one another through technological innovation.
There are many resources available to help ALS patients. This app can be used to allow patients to select and choose the words that they like, and the patient can also wink at the phone to approve a word. It tracks letters on a board and allows people with ALS to create words with one another (Revell).
Discussion
ALS is still a deadly disease. Paralysis, limb and bulbar loss can result. Sporadic ALS is the most common form of ALS. TDP-43 can be found in familial and sporadic ALS. This gene can affect RNA trafficking as well as homeostasis. There are three types of genes. FDA approved two drugs for ALS. These drugs do not make the disease worse. AI is accelerating ALS Research. AI has also identified new genes that may cause ALS. Unfortunately, we may not be able to find a cure immediately. It has been shown to cause serious damage to the body and may even lead to death.
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