Thesis on "Lou Gehrig's Disease"

Thesis 5 pages (1440 words) Sources: 5 Style: MLA

[EXCERPT] . . . .

Lou Gehrig's Disease: Etiology And Pathology

Amyotrophic lateral sclerosis is a motor neuron disease which causes muscular degeneration. ALS, also known as Lou Gehrig's disease, causes the death of the nerve cells in the central nervous system, resulting in a debilitating disruption of voluntary motor capabilities. As these nerve cells die off, the body becomes increasingly unable to send messages to its muscles, resulting in their immobility and atrophy. In spite of the relative awareness of this illness and a medical familiarity with its associated symptoms and course of diagnosis, it also remains vexing to medical science, which has only devised modestly effective methods of disease management and no ability to control or prevent the condition.

Etiology (causative agent):

The etiology of ALS is one of the most challenging areas with respect to our collective understanding of the disease. Though a number of causative agents have been suggested, most of those identified are either only speculative in nature or have been shown only to be true in a certain percentage of cases. Indeed, there are a number of types of ALS which appear in all likelihood to be differentiated by these causative factors.

For instance, familial ALS has been so named for the connection demonstrated between the genetic presence of ALS and its occurrence in offspring. Indeed, "in 10% of cases, ALS is transmitted in an autosomal-dominant manner [familial ALS (FALS)]" (Ray & Lansbury, 5701) This helps to act least connect the condition to some genetic indicators, which could be a clue in future research as to the genetic preconditions inciting the surfacing of the disease. It also points to the significantly heightened risk of familial ALS in the children of those who have familial ALS. For those that have what is called sporadic ALS, there is no observable connection between the condition's presence in family history and its occurrence in an individual. This demonstrates the complexity of identifying the etiology of ALS.

Still, even in familial cases, evidence suggests that heredity alone is not sufficient in understanding the cause of ALS. There have been some clues but at present, these have also only led to partial resolution on the subject. Indeed, a theory which is now popularly evaluated is that which identifies ALS as being the result of a genetic mutation. According to the study by Ray & Landsbury (2004), "the most commonly mutated gene, accounting for ?20% of all FALS, encodes superoxide dismutase type 1 (SOD1), a dimeric metalloenzyme that is rich in ?-sheet structure and contains copper- and zinc-binding sites, the former being critical for catalysis" (Ray & Lansbury, 5701) the hypothesis ventured on this subject indicates that the mutation on the SOD1 gene obstructs this from producing enzymes which are crucial in protecting the body from antioxidants. The deficiency in this area allows free radicals in the body to attach themselves to cells and proteins. These stifle motor neurons and gradually produce symptomatic evidence of the condition's presence.

In spite of compelling evidence that this genetic mutation can be identified in a number of cases, it too remains insufficient in accounting for all known cases of the condition. There are also causes to speculate that in many cases environmental toxins have played a part in the development of this condition. The higher demonstrated risk of various categories of individual, whether determined by profession, military service or geography tends to suggest that specific environmental conditions have also contributed to the cause of the disease. To what extent this is true remains uncertain, though numerous cases are available through general research endorsing the likelihood of this connection.

Diagnostic characteristics of the etiologic agent

Diagnosing ALS can be particularly difficult because the onset of symptoms may not demonstrate the immediate severity of the condition. Given the difficult which researchers have had in pinning down the etiology of the condition, identifying the etiologic agent does not typically occur. Instead, it is more common that the symptoms of the condition itself will reach a severe enough state to cause the physician to consider the possibility of ALS. In other words, it is less likely that the etiologic agent will produce an opportunity for diagnosis.

As WebMD reports, "it can be hard for your doctor to tell if you have ALS. It may not be clear that you have the disease until… READ MORE

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