Lopez 1The benefits of genetic research on Systemic Lupus ErythematosusIn most cases, despite the fear that genetic information will be misused in waysthat harm individuals, the benefits of genetic research outweigh the risks. This isespecially true in the case of Systemic Lupus Erythematosus (SLE), a complicatedautoimmune disease that affects .05% of the western population.1 Presently, preventionof the disease is non-existent; meanwhile diagnosis and treatment often lack precisionand efficiency. One of the major challenges is that SLE is caused by a number of factorsthat affect each individual differently. With the biotechnology that exists today, afeasible way to overcome this challenge is to identify a gene(s) that is directly associatedto SLE. Although up until recently genetic studies were for the most part inconclusive,the complex nature of SLE suggests that improvements in its diagnosis, prevention, andtreatment will result from further genetic research.Lupus is a chronic autoimmune disease where the immune system, instead offighting harmful tissues, such as viruses, becomes hyperactive and attacks normal tissue.2When the immune system goes wrong, it produces auto-antibodies that circulate in theblood and can enter some of the body's cells (namely in the skin, joints, and kidneys) thathave walls permeable enough to let them in. These antibodies can then attack the DNA inthe cell's nucleus and cause painful and debilitating inflammation.3 There are threedifferent kinds of lupus: Discoid lupus (also known as Cutaneous lupus) affects the skin;Systemic lupus attacks multiple systems in the body which may include the skin, joints, 1 Prokunina, L. et al. A regulatory polymorphism in PDCD1is associated with susceptibility to systemic lupus erythematosus inhumans. Nature Genet. 28October 20022 OMIM #1527003 Http://www.uklupus.co.ukLopez 2blood, lungs, kidneys, heart, brain and nervous system; and finally drug-induced lupuswhich may develop after taking certain prescription medications4.The complexity of the disease’s etiology poses one of the greatest challenges toimproving its diagnosis and treatment. The definite origin of lupus is not presentlyknown; it is likely to be a combination of factors including genetics, the environment, anddrugs.5 For most people, lupus is not simply an inherited disease; it develops because aperson carries a genetic predisposition to lupus. This does not necessarily mean that theperson will contract the disease, however, the risk that their hormonal make-up and/orcertain environmental factors will elicit the disease is greater (ultraviolet light is one ofthe major factors that exacerbate the development of the disease). Finally, dozens ofmedications have been reported to trigger lupus in patients whether or not they have thepredisposition gene6. The etiological uncertainties of this disease pose two challenges formedical practitioners: first of all, diagnosis becomes difficult because one single test maynot identify all cases, and secondly, the same treatment may not be effective for everypatient if their case of lupus comes from a different source.Currently, the methods utilized to diagnose SLE are neither timely nor efficient.A survey of Lupus Foundation of America members suggests that more than half of thoseafflicted with lupus saw three or more doctors before obtaining a correct diagnosis. 7 Oneof the problems is that there is no one definitive diagnostic test for SLE, the doctor has todo a full examination of the patient and do various tests before looking at all the evidenceand coming to a conclusion. Since SLE is a multi-system disease, there have to be 4 OMIM #1527005 OMIM #1527006 OMIM #1527007 www.lupus.orgLopez 3symptoms in many parts of the body and blood tests that support its presence. However,it can take time for the disease to show up in blood tests, which then often giveinconsistent results, switching from positive to negative each time.8 Thus, there is a highprobability that a diagnosis based on blood tests is inaccurate. Another criteria for thediagnosis is that a person exhibit four of the eleven symptoms, ranging from skin rashesto joint pain.9 The problem with this method is that it can take months or even years forenough symptoms to show up for the doctor to be able to make an accurate diagnosis;10 afurther flaw is that since many of the symptoms are also indicators of other diseases,there is no guarantee that SLE is the underlying cause. One final challenge for SLEdiagnosis is that the disease can attack different organ systems of the body, and thus eachdiagnosis must be tailored to a specific case.The use of molecular diagnostics, the ability to identify or predict a disease basedon an individual’s genetic profile, would significantly improve the accuracy andtimeliness of SLE diagnosis, as well as give way to a form of preventive medicine. Onceresearchers find a definite gene(s) predisposing SLE, patients will be able to take genetictests giving accurate results regarding their predisposition to the disease. Althoughpredisposition does not equal infection, diagnosis based on symptoms will be moreaccurate if the doctor knows whether the patient has tested positively or negatively for thegene; symptoms in a predisposed patient will gain more significance. Furthermore, sincedoctors could identify patients that are more susceptible to the disease even before 8 http://www.uklupus.co.uk9 The symptoms can include- Arthritis, muscle pain and weakness, fatigue, sun-sensitivity, hairloss, "Butterfly" or malar rash, fever, anemia, headaches, recurrent miscarriages. Some peoplewill have only a few symptoms, others may have them all. http://www.uklupus.co.uk10 http://www.uklupus.co.ukLopez 4symptoms began, they would be able to prevent the disease by advising those patients toavoid environmental factors that could elicit or exacerbate the disease, such as ultravioletlight or certain medications. Here, genetic research leads to a form of preventivemedicine, which has the benefit of sparing the patient the painful inflammations thatresult from the disease.In addition to improving diagnosis, genetic findings can aid in the development ofbetter treatment. According to the Lupus Foundation of America, four of ten lupuspatients are treated by
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