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Ability to link a medical condition to a specific gene allows for mitigation of treatment measures targeting that gene. Successful mapping brings raises chances of eliminating a condition or paves way for development of treatment. Researchers have become more eager in identifying underlying factors for chronic illnesses and diseases.
For some conditions, treatment focuses on alleviation of pain or prolonging life. Conditions such as stoke kill about six million people annually. In developed countries, stroke is the second top cause of demise. This necessitates research approaches to find ways of reducing mortality. Treatments for many conditions are developed when a link through their genetic sequence is established (Mutation, 2012).
A team of researchers from various institutes carried out a study whose aim was to identify genetic variations common in people suffering from Ischaemic stroke. The scientists from the University of Oxford and other United Kingdom based research institutes sought to isolate a genetic variant to link to the disease to pave the way for development of suitable treatment (Mutation, 2012).
The researchers selected a sample consisting of 3,548 patients of Ischaemic stroke, and a healthy group of 5,972 to act as a control sample. DNA samples were extracted from both groups and compared to identify genetic variants common to the stroke victims.
DNA samples from the participants were extracted using a standard technique. Total cellular RNA was extracted from the samples, quantified and cDNA synthesis performed using High Capacity Kit developed by Applied Biosystems. ABI 7500 PCR system was used to measure the level of HDAC 9 and amplified using Taqman probe Hs00402870_A1 for all isoforms, and using Hs00206843_A1 for 1, 4 and 5 isoforms. Control samples were run simultaneously in order to verify the efficacy of amplification.
Human GUSB gene was used to normalize the level of HDAC gene. Relative expression of HDAC and GUSB genes was calculated using the 2-∆∆CT method. Duplicate PCR was conducted and results accepted for samples with a standard deviation below 0.5 (Tollefsbol, 2010).
The scientists observed genetic variants on three separate localities, which other researchers in the past had associated with varying grades of Ischaemic stroke. The variations occurred at PITX2, short arm of chromosome nine and on ZFHX3 genes. The researchers also observed a unique genetic variant on HDAC 9 gene.
The variant, which occurred at a new position on the gene, is suspected to cause large vessel stroke. The variant is abundant among patients in the United Kingdom, occurring in about 10% of stroke cases. Through calculations, researchers concluded that each variant increased the chances of having a large vessel stroke by 42% (Tollefsbol, 2010).
During the study, the researchers assumed that genetic variations common among stroke patients potentially made them susceptible to stroke. Use of a control group comprised of healthy individuals provided a basis for comparing gene patterns during the study (Mutation, 2012).
The study, however, could not conclude whether HDAC 9 was responsible for stroke. However, the gene was shown to contribute to the condition almost doubling the chances of occurrence. Such a study can only point out to the possibility of such variants promoting the disease or unmask other related components that have the same effect (Mutation, 2012).
Disease and significance as a public health issue
Stroke ranks amongst the top three causes of death to the elderly population. If not death, it causes paralysis or chronic disability. In particular, Ischaemic stroke occurs when a major artery is blocked reducing oxygen supply to the brain. Narrowed blood vessels impede supply of oxygen to the brain, rapidly destroying large portions of the brain, resulting in paralysis or death. Ischaemic stroke occurs as a result of blockage on carotid or large cerebral arteries (Mutation, 2012).
Though genetics of a person may predispose towards stroke, habits such as smoking, environment and other lifestyle factors increase the chances of suffering the condition. Stroke is, therefore, not limited to people whose genes point out to predisposing (Mutation, 2012).
Stroke raises public health concern due to several reasons. Firstly, it causes paralysis. The state renders a person inactive and, therefore, unable to participate in economic and social activities. In addition, it increases the level of dependency. Paralyzed people have to depend on others, usually immediate family, since they have to be fed for or moved around.
This, therefore, means additional burden to family members. Secondly, care given to stroke victims is expensive. Equipment for supporting stroke victims are expensive and maybe unaffordable to some households. In an effort to cope up, the family subjects itself to financial constraints that may affect the overall wellbeing of the rest of the family.
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Similarly, inability to provide care may cause psychological trauma amongst family members. Thirdly, Stroke may cause death. Though this mostly occurs to the elderly population, it robs families of societal icons. Deceased people go through bereavement, which causes mental disturbance. The disease, therefore, is of public health concern as it lowers the quality of life to either the affected person, or immediate family.
Mutation linked to 42% rise in stroke risk. (2012). Retrieved from https://www.nhs.uk/news/genetics-and-stem-cells/mutation-linked-to-42-rise-in-stroke-risk/
Tollefsbol, T. O. (2010). Handbook of epigenetics: The new molecular and medical genetics. London: Academic.