Throughout our history the diagnosis of diseases has been challenging and often lacks the certainty that we strive for in modern biological science. With the new advancements in genetic resources and tools, we are becoming ever closer in determining correlations between genetic sequences and relative diseases, therefore determining specific outcomes, cures and unravelling the uncertainties within the mechanisms that cause these outcomes.
Some people unfortunately inherit bad combinations of genetic sequences leading to autoimmune diseases when exposed to an external environmental trigger. The disease is an immunological disorder in which the immune system turns against itself [1]. All individuals are tolerant to their own antibodies produced from antigenic proteins and polysaccharides, however a malfunction to this self tolerance leads to autoimmunity diseases [2]. Self tolerance mechanisms have been well studied and occurs when self-reactive lymphocytes; a type white blood cell engaged in cell-mediated immunity, encounter self antigens in peripheral tissues and are killed or shut off[2]. This process can malfunction and leads to the development of autoimmune diseases when the self-reactive lymphocytes escape and become active. Exactly how this result occurs is not completely known however it is highly speculated that it is a combination of genetic sequen
ces and acquired environmental triggers [2].
ces and acquired environmental triggers [2].To better understand the causes and process of this disease work is being done in finding common factors in autoimmune varieties examining single genotype effects and attempting to build a model to better understand the complexities of the disease which will ultimately be then used to extend into specific varieties.
While correlations between mendelian traits (a), the relationship between casual genetic variant and disease state is determinable, complex traits (b); where the disease state is recognised to be a result of interactions and multiple genetic sequences and environments, are only probabilistic at this stage due to the multiple genotype effects totalling in no self tolerance[2].
There are many devastating forms of autoimmune diseases whereby many lead to mortality or morbidity and can induce which dreadful burdens upon victims. The realization that there is a correlation between the development of autoimmunity and inherited DNA sequence variations, is bringing newfound hope within the genetic community in understanding in how we can become intolerant and lead to possible therapeutic strategies and cures in dealing with this previously incurable disease.
By Tom Fairlie 42049739
References
[1] Campbell. N, Reece. J, Meyers. N, Urry. L, Cain. M, Wasserman. S, Minorsky. P, Jackson. R “Biology” 8th edition (2009)
[2] Nature “Paths to understanding the genetic basis of autoimmune disease” viewed at, http://www.nature.com/nature/journal/v435/n7042/full/nature03723.html
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http://www.nature.com/nature/journal/v435/n7042/full/nature03723.html
