Free «Molecular Basis for Human Disease» Essay Sample

There is a variety of human diseases. There are some that are caused by viruses like common cold, influenza, chickenpox and cold sores. But there are also some classified as genetic disorders which are inherent within the individual. This is another health issue medical science is fully aware of, knowing that diseases can only be found either in the genetics of the individual or in the environment to which he/she belongs. The burden of genetic disorders in society is rising very rapidly. For instance, genetic diseases have reached 28-40 percent of hospital admissions in North America, Canada and England (Milunsky and Milunsky). Through the years, countless scientists and doctors have conducted further research on what constitutes this “genetic disorders”, how they affect the human resistance to diseases, and what necessary treatments can be done. The following discussions included in this paper will be covering these things.

A genetic disorder may be defined as a disease caused by an abnormality in an individual’s DNA. The human system has 46 chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) housing about 30,000 to 40,000 protein-coding genes. Now regarding the genetic disorders, one common cause of this is mutation in one of the genes in an individual (National Center for Biotechnology Information 1). However, one difficulty in evaluating the chief causes of genetic disorders is that there diseases having complex patterns of inheritance; from grandparents to parents, from parents to children and so on. In this case, it may be said that there is more than one mutation that happened in the development of the genes of an individual. In addition, the effect of this mutation could lead to alteration in the cell protein, which in turn affects the physiological aspects of the human body.

One example of a disease that leads to a significant disorder is the Toxoplasmosis. However, this is actually caused by the disease commonly found in outdoor cats. The problem is that when a person – especially pregnant women – becomes infected with this, it may certainly extend to other people (most probably, offspring). Nevertheless, not all disorders are hereditary, though they are genetic (Wynbrandt and Ludman 173). That is, after the conception of an offspring, the disease passed from the parent may not anymore be extended to the next generation. Also, disorders are not necessarily congenital or manifested at birth (Wynbrandt and Ludman 173). Symptoms of genetic disorders vary in terms of time when they become apparent.

There are disorders that can be classified as multifactorial, wherein environmental influence has a part in the cause of the disorder (as in the case of the example above). This applies to the most prevalent disorder thus far, which includes (but not limited to) cleft lip, congenital heart defects, neural tube defects, and essential hypertension (Wynbrandt and Ludman 173). But these disorders are also clear manifestations of considerably great defects in specific genetic structure of cells. In the issue of cleft lip, for example, it is particularly the muscle in the mouth of the person that is infected with the disorder. Thus, disorders are not manifested randomly or in a way that nobody can determine what to treat and how to do so.

The treatment of any genetic disorder varies as well. For congenital heart defects, for example, treatment may include mostly physical instruments. It may be taking adequate exercise or going through some medical operations. For some mental disorders, treatment may include some psychological instrumentation like rehabilitation. But for greater disorders which require intense diagnostic treatment, the process may include determining the genetic linkage, where the genes (including the affected one) can be found. There must usage of genetic markers and DNA probes in order to clearly indicate the ‘which’ and ‘how’ of the treatment.


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