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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