Importance of Molecular Biology in medicine
It is well known that the various foundational
concepts of science are well integrated within one another. In many cases,
individuals from the past have used concepts or theories from one realm of
science to make lucrative discoveries in another. One may even say that majority
of the past discoveries made in subjects such as physics and biology would not
have been feasible without the integration of the different realms. The effects
of integration are still apparent in modern day science.
Molecular Biology plays an important role in many of
the scientific discoveries made today. Many of the discoveries made in Medicine
would not have been possible without the contribution of molecular cellular biology
investigation techniques. With the contribution of Molecular biology, the cause
of a rare genetic disease, Hutchinson-Gilford Progeria syndrome (HGPS) was
discovered.
HGPS is genetic disorder that leads to the premature
demise of the carrier predominantly due to the carrier suffering from a
myocardial infarction or a stroke. At birth, children who acquire HGPS do not
display symptoms of the disease. The onset of the symptoms does not become
apparent until 12 to 24 months after birth. The life expectancy of a carrier is
approximately 10 to 15 years. HGPS carriers exhibit various symptoms such as
accelerated aging, cardiovascular defects, atherosclerosis, sclerotic skin
(hardening of skin), joint contractions, bone abnormalities, alopecia (hair
loss), and growth impairment. The worst part about this genetic disorder is
that the children who effected with HGPS have normal cognitive ability so they
are fully aware of their unique attributes.
For a long period of time, the cause of HGPS was
unknown. It remained a mystery until molecular cell biology investigational
techniques were utilized to decipher the cause. Techniques such as PCR,
fluorescent dye stains, western blot, genome sequencing, and gel electrophoresis
were utilized.
Prior to conducting the study, it was
suspected that the Lamina gene played a role in the genetic defect. Small
fragments of skin from both healthy children and children who had HGPS were
cultured, stained with fluorescent dye, and examined for LMNA abnormalities.
They observed a difference in the appearance of nuclei. Normal fibroblast
exhibits a smooth appearance of nuclei. The nuclei obtained from the HGPS
children exhibited irregular shapes with wrinkles. From
this discovery, the conductors of the experiment were able to come to the
conclusion that the nuclear lamina was indeed involved in the genetic disorder.
The LMNA gene for children with HGPS was then
sequenced. It was established that there was a mutation that took place in the
11th Exon at the nucleotide position 1824. At this position, T is substituted
for C. With this new mutation, a new codon triplet is generated, GGT. This
mutation ultimately generates a new splicing site. Messenger RNA of Lamin
A was analyzed by electrophoresis in gels; and lamins A and C were analyzed by
western blotting. Messenger RNA from the HGPS children exhibited two bands in
the gels, one for normal Lamin A and an additional band that was shorter by 150
nucleotides (50 amino acids). The decrease in length was a direct result of the
premature splicing of pre-mRNA.
Essentially, the premature splicing of pre-mRNA
is the ultimate cause that results in the acquirement of HGPS. This discovery would
not have been possible without the help of molecular biology. Thus,
illustrating the importance of molecular biology in medicine.
Reference: “Importance
of molecular cell biology investigations in human medicine in the story of the
Hutchinson-Gilford progeria syndrome” by Ivan Raska.
Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2984137/
This as your first post I think says a lot about what area you are interested as we speak about the subject of molecular biology.
ReplyDeleteI like how you start, I have always thought that we have so many areas of science due to the more obvious qualities that we can see or measure on a larger scale. As we moved forward and started looking into the microscopic it became more and more difficult for one branch to have the ability to determine exactly what was being looked at. We see a bit of each discipline in microbiology and this has lead to the instruments and discoveries we have today.
The details of HGPS shows not only that microbiology was able to give us more information about the disorder, but you also gave details about how the disorder is caused. This information would not have been found without some of the techniques you have mentioned.
From this post I can tell you have an interest in the field and disorders in general and am excited to see what else you post. I like what your initial paragraph and agree wholeheartedly that the integration of fields of study is a major catalyst for scientific progress. However, in my initial read through the paragraph seemed out of place and was a bit confusing at first.
ReplyDeleteOther than that though, it was really interesting and made me want to learn more about this disorder.
I think this discussion of HGPS shows your interest in Medicine and I look forward to reading the rest of your blogs. I agree with Jessy, your first paragraph is a little bit out of place. I also think it would have been helpful to mention that HGPS is an autosomal dominant disorder. I may be entirely wrong but when I think about the word carrier, I think about autosomal recessive or x linked genes. But overall, I think you did a good job of explaining this disorder and I liked how you discussed what was going on at the organismal, cellular, and genetic level.
ReplyDeleteI really like how you mentioned that the different fields of science are integrated and how some discoveries would not be made if not for the integration. I also have never heard of HGPS or the LMNA gene, so it was nice to read about something new. It was really interesting and I can't wait to see what else you post.
ReplyDeleteThis was a very interesting post! I have heard about HGPS maybe once or twice but after reading your blog, you have taught me so much more! I find it so interesting that the techniques used to find out what causes this genetic disorder are techniques that we science majors have used numerous times in lab. Through a little research of my own, I have found that molecular biology does play a huge role in medicine, especially when it comes to different diseases. It is through molecular biology that many scientist have found out the whys, hows, and even cures for many diseases that at one point and time we knew nothing about!
ReplyDeleteFirst of all, I agree 100% with your initial remarks about the great importance of interdisciplinary collaboration in science. That is truly how so many discoveries and strides have been made especially in medicine as was shown by your example of HGPS. I found it interesting and amazing how these grand discoveries in medicine as to the cause of a disease are made many years later. Now there are so many tools as you mentioned that can help shed light on the function of the human body and the mechanisms of disease. One point that I would like to bring up is how important it is and will be going into the future of the medical sciences to not become totally reliant and complacent on the techniques and tools already developed. As the next wave of scientists, we must continue pressing forward in the footsteps of those who have come before and seek new and innovative tools and methods for diagnostic and exploratory use.
ReplyDeleteTerrific start, Samson.
ReplyDelete