The answer is in the genes


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Laura Isabel Jaramillo J.

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The answer is in the genes

  1. 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. 2. FOLDING
  3. 3. FOLDING
  4. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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…
  16. 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. 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. 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. 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: 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: References. MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 7. ed. Medellín: UPB. Fac. de Medicina, 2012. 292 p.
  20. 20. “Hay cierto placer en la locura, que sólo el loco conoce.”