Laura Isabel Jaramillo J.

1. Laura Isabel Jaramillo Jaramillo
Medicine Student
The answer is in the genes.
Obesity and trisomy 21, two different conditions
to which the answer is in the genes

2. FOLDING

3. FOLDING

4. The knowledge of the structure of nucleic
acids began in the XIX century, and since
that moment until now, the information about
DNA structure has been a tool for the
diagnostic of a lot of diseases.
The trisomy 21 and the obesity have a
common characteristic, the genome, and is
because the advanced technologies that
nowadays the knowledge about the
structure of DNA is a new window to
develop new treatments.

5. Scientists Show Proof-Of-Principle for Silencing
Extra Chromosome Responsible for Down
Syndrome
July 17, 2013
After a long time of investigation and develop
of the complex information about genome in
trisomy 21, finally there is hope on the way of
"switching off" the extra 21 chromosome.

6. XIST gene, an important discovery made on
the x chromosome, has the ability of "turn off"
this chromosome. This gene stops the
production of new proteins inactivating the
principal function of the codified DNA in the
chromosome.

7. The exhaustive work in
the investigation
reached a great
achievement by
inducing the XIST gene
in a 21 chromosome
using ZFNs, the effect
was the desired one, the
scientists inactivated the
chromosome with the
induction of the gene.
The next step is getting
to go from "in vitro" to
"in vivo".

8. The trisomy 21 is a
chromosomal abnormality
that has been present in a
considerable percent of the
population, the Dr.
Lawrence project has a
vision of trying to eliminate
the disease with a genetic
work.

9. I think that the new great possible solution
developed by Dr. Lawrence opens a path of
hope to be employed in a cell with 21
trisomy, if this process is succesful in a cell
of a human being with the disease, it may be
a big step for getting the cure of the "down
syndrome". It let us realize the importance of
genetic studies, and is a great solution for
this and other diseases.
Personal opinion…

10. Gene Mutation Linked to Obesity: Mice Gain
Weight Even When Fed Normal Amounts of
Food.
This new identified genetic factor
about severe obesity may be a new
possibility for looking deeper in this
disease that nowadays is more
common in the society.
Even it is a new favor point to the
genetic.

11. The important part of the research is that
they found the Mrap2 gene, it was affected
in the experimental mice and the scientist
realized that this gene was the causative of
the obesity.

12. The mice with the mrap2 gene were fed with the
same portion of food that the mice without the
mutation, despite of this, the affected mice gained
more weight. This difference was one of the
principal factors for the scientist to consider the
implication of the gene in the obesity.

13. The intrinsic relation of the mrap2 with the
metabolism is the principal cause of the
gained weight. The protein codified in the
gene has an important function in the brain,
facilitates the signaling of the mrc4
receptor which helps to increase or
decrease the metabolism.

14. Obesity is a metabolic disorder increasingly common in the
world, and is the root of many other enfermedes that trigger
death. In my opinion, have found a gene related to this
condition provides the ability to start developing quick
solutions for this disorder so common in populations.
Personal opinion…

15. MEDICAL UTILITY

16. The genetic is a very important science for the
diagnostic and more importantly, the treatment
of some diseases. The high technology level
that the genetic brings to the health area is a
big step of the humanity ahead the diseases
that threat with harm us.

17. The important knowledge of the DNA structure is one of the main factor for
the development of the used techniques and is a form of being closer of the
answer to a lot of diseases. The new treatment based on the human
genome might be the new future cure for the diseases, is the proof about
the importantly relation between the medicine and the science.

18. This science with the hand of the medicine offers a hope for a new
way to live for the patients with trisomy 21 and obesity. It brings the
possibility of reach a better life, without the restrictions of the
disease.

19. Journal reference: M. Asai, S. Ramachandrappa, M. Joachim, Y. Shen, R. Zhang, N. Nuthalapati, V. Ramanathan,
D. E. Strochlic, P. Ferket, K. Linhart, C. Ho, T. V. Novoselova, S. Garg, M. Ridderstrale, C. Marcus, J. N.
Hirschhorn, J. M. Keogh, S. O'Rahilly, L. F. Chan, A. J. Clark, I. S. Farooqi, J. A. Majzoub. Loss of Function of the
Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity. Science, 2013; 341 (6143):
275 DOI:10.1126/science.1233000
News available in: http://www.sciencedaily.com/releases/2013/07/130717132330.htm
Journal refetence: Jun Jiang, Yuanchun Jing, Gregory J. Cost, Jen-Chieh Chiang, Heather J. Kolpa, Allison M.
Cotton, Dawn M. Carone, Benjamin R. Carone, David A. Shivak, Dmitry Y. Guschin, Jocelynn R. Pearl, Edward J.
Rebar, Meg Byron, Philip D. Gregory, Carolyn J. Brown, Fyodor D. Urnov, Lisa L. Hall, Jeanne B.
Lawrence. Translating dosage compensation to trisomy 21. Nature, 2013; DOI:10.1038/nature12394
News available in: http://www.sciencedaily.com/releases/2013/07/130718142807.htm
References.
MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 7. ed. Medellín: UPB. Fac. de Medicina, 2012. 292 p.

20. “Hay cierto placer en la
locura, que sólo el loco
conoce.”