Sunday, November 16, 2014

Genetic Mutation in Glaucoma Patients

Glaucoma is a medical condition that remains a significant origin of permanent blindness in humans. Greater than 60 million individuals are currently affected by this medical condition, and by the year 2020 this quantity is estimated to rise to 79.6 million individuals. There has existed the belief by scientists that there may be genetic variations that result in the onset of glaucoma. Newer genetic sequencing strategies may have finally started to explain the genetic alterations that produce the consequence of becoming victim to the implications of this medical condition.


Scientists at the University of Liverpool have investigated the most common form of glaucoma, called primary open-angle glaucoma, in their genetic studies. They have used a newer genetic sequencing technology called massively parallel sequencing in their collection of data from the genomes of mitochondria. These have been taken from various glaucoma patients to study the existence of genetic mutations, and with these data they have found that mitochondrial mutations are certainly apparent.

Study of the effect of mitochondrial gene mutation on the nature of diseases in humans has remained a difficult task, due mainly to the likely possibility for individuals to possess both mutated and healthy mitochondrial genes. Despite this, massively parallel sequencing has allowed for more differentiated study to aid in the identification and examination of mutated mitochondrial genes.


Further investigation is necessary; however, this research has demonstrated the efficacy of massively parallel sequencing in providing data regarding the mitochondrial mutations in glaucoma patients. A larger sample pool of glaucoma patients is certainly necessary for future studies, and scientists believe such research will yield linkage of specific genetic mutations to development of glaucoma in patients. Such information can achieve two essential goals. The first is to maintain the ability to identify predisposition for the blindness caused by glaucoma prior to experiencing the symptoms. If particular gene mutations are identified, testing can be done earlier in life to combat the disease prior to its appearance in the form of symptoms. The second is to develop drug therapies that can target the sites of genetic mutation on the mitochondria and prevent the symptoms of the condition.

I found this article to be very interesting in the use of a new strategy for genetic sequencing to execute research that may ultimately yield prevention of blindness in glaucoma patients. It seems that scientists are rapidly developing many new technologies that improve the efficacy of genetic research, and this is so important due to the large role genetics play in many conditions that are currently not fully treatable due to insufficient genomic knowledge. Blindness is such a severe symptom that places huge restriction on the ability to execute the normal functions of daily life, and so research to combat a disease like glaucoma that causes such a symptom is so crucial. I am hopeful that scientists will be able to obtain more data on the mitochondrial mutations that are causing glaucoma, and eventually develop helpful drug therapies. 


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