ALEJANDRA VARGAS VELÁSQUEZME D I C I N E S T U D E N TI I I S E ME S T E R T e a c h e r , LINA MARÍA MARTÍNEZ SÁNCHEZ B I O L OGY MO L E C U L A R F E B R A U R Y 27, 2012 MEDELLÍN, C O L O M B I A
DNA RNA Health I t c o mp l y t h e c e n t r a lProteins d o g ma . DNADISEASE Al t e r e d t h e c e n t r a l RNA d o g ma . Pr ot e i ns
SCI ENT I STS CRE AT E NOV EL RNA REPAI R T E CHNOL OGYScientists from the Floridacampus of The ScrippsResearch Institute arealready hard at work toextend the labs findingsabout the RNA. Results of “Expanded triplet investigation repeat“ Three nucleotides thatDefective RNA repeated many more times than normal in the genetic code of affected Causes individuals.
S CI E NT I S T S CRE AT E NOV E L RNA RE P AI R T E CHNOL OGY"For a long time it was thought that only the protein translated from this type of RNA was toxic, but it has been shown recently that both the protein and the RNA are toxic. Our discovery of a small molecule that binds to RNA and shuts off its toxicity not only further demonstrates that the RNA is toxic but also opens up new avenues for therapeutic development because we have clearly demonstrated that small molecules can reverse this type of defect,“ said Matthew Disney. Science Daily (January 17, 2012).
S CI E NT I S T S CRE AT E NOV E L RNA RE P AI R T E CHNOL OGY IN THE The early-stage abnormalities RESEARCH Scientists Improvement Used 4, 6- diamidino-2- Toxic CAG phenylindole triplet repeat (DAPI) to inhibit a
SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGY The There are a number of The triplet triplet repeat neurological and neuromuscularrepeat The The triplet repeat inherited diseases whose triplet molecular basis is the alteration repeat in the RNA, that has repeated nucleotide units, usually in triplets. The tripletDefective repeat The normal population shows RNA these sequences repeated in a variable and relatively low number, but there is a limit for that the sequence tends to have Normal RNA mutations in the individual and upon the following generations.
SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGYOBSERVATIONMolecular genetics has facilitate dramatically to the possibilities of genetic manipulation of the elements of interest, such as diseases, thanks to this, it is possible get information, knowledge and possible solutions about disorders that affect an individual. One of the main objectives of the research is to cure, reduce some alterations, decrease the effect caused by the disease or simply prevent future generations suffering the same disease. Although various remedies have been identified, today RNA is a key to many solutions.
SCIENTISTS CREATE POTENT MOLECULES AIMED AT TREATING MUSCULAR DYSTROPHY Act against Molecules RNA d e f e c t Designed Studying
SCIENTISTS CREATE POTENT MOLECULESAIMED AT TREATING MUSCULAR DYSTROPHYSome defects of RNA are directly responsible for manydiseases, one example is the most common form ofmuscular dystrophy in adults, myotonic dystrophy type 1. Many research has shown that new compounds improved a number of biological defects associated with myotonic dystrophy type 1 in cell culture and animal models. For this reason, RNA is now used as a target point for some specific diseases.
SCIENTISTS CREATE POTENT MOLECULESAIMED AT TREATING MUSCULAR DYSTROPHY Binding to aMyotonic dystrophy Disease By particular protein, type 1 MBNL1 Involves Leads Doing the repetition of RNA defect CUG in RNA Inactive sequence Known as a In this case A series of three nucleotides repeated "triplet repeat” Means in an individuals genetic code
SCIENTISTS CREATE POTENT MOLECULES AIMED AT TREATING MUSCULAR DYSTROPHYDefective Symptoms of this RNA Myotonic dystrophMyotonic variable disease can dystrophy type 1 y type 1 include wasting of the muscles and other muscle problems, cataracts, hDefective eart defects, andproteins hormone changes.
SCIENTISTS CREATE POTENT MOLECULESAIMED AT TREATING MUSCULAR DYSTROPHYOBSERVATION"There are limitless RNA targets involved in disease; the question is how to find small molecules that bind to them, Weve answered that question by rationally designing these compounds that target this RNA. Theres no reason that other bioactive small molecules targeting other RNAs couldnt be developed using a similar approach.” Disney said. Science Daily (Febraury 22, 2012). Through studies, it was possible to identify certain molecules that have the ability to reduce the defects of RNA, which in this case cause a type of muscular atrophy. It must emphasize that thanks this finding, today has stimulated even more study of RNA as an alternative of solution for certain pathologies.
MEDICAL UTILITYMolecular biology is increasingly used in clinical diagnosis. A growing number of diseases can be detected and monitored in real time, generating relevant information for better medical management of patients.
MEDICAL UTILITYThe most promising field of action is molecular biology. Must search in information the cause of the disease, that it is found in the gene, a type of informatic program which explains that the cell has to make and how. Therefore, talk of disease in many cases not in all, is the same as that say which the inheritance of the parents is altered and ordered a wrong way to development. Accordingly, many genes have been identified as the cause of various muscular dystrophies, haemophilia, thalassemia and cystic fibrosis, among other diseases.
MEDICAL UTILITYIt is important to notethat to prevent thisfrom occurring theDNA and RNA mustbe in perfectcondition. Myotonic muscular dystrophy (DM1) is the inherited neuromuscular disease most common in adults and is considered the first example of a disease caused by toxic RNA.
MEDICAL UTILITYBecause the molecular biology isrelated to the area of pathology,the molecular biology laboratoryused diagnostic technologies andresearch to identify geneticmutations, laboratoryconfirmation and control of thedevelopment of pathologies. Forthis reason, I believe that biologyis needed for reach a definitivediagnosis of what you haveinterest and future solutions tothe questions that invade us.
BIBLIOGRAPHY • MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 2. ed. Medellín: UPB. Fac. de Medicina, 2006. 208 p. • SCRIPPS RESEARCH INSTITUTE. Scientists Create Novel RNA Repair Technology. Science Daily ( 17 Jan 2012). • JUPITER, FL. Scientists Create Potent Molecules Aimed at Treating Muscular Dystrophy. Science Daily ( 22, Feb 2012).