SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGY

and SCIENTISTS CREATE POTENT MOLECULES

AIMED AT TREATING MUSCULAR DYSTROPHY

ALEJANDRA VARGAS VELÁSQUEZMEDICINE STUDENTIII SEMESTER

Teacher, LINA MARÍA MARTÍNEZ SÁNCHEZ BIOLOGY MOLECULAR

FEBRAURY 27, 2012MEDELLÍN, COLOMBIA

 

  

 

DNA RNA

Proteins

HealthIt comply the central

dogma.

DNA RNA

Proteins

DISEASE

Altered the central dogma.

SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGY

Scientists from the Florida campus of The Scripps Research Institute are already hard at work to extend the lab's findings about the RNA.

Results of investigation

Defective RNA

“Expanded triplet repeat“Three nucleotides that repeated many more times than normal in the genetic code of affected individuals.

Causes

"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).

SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGY

SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGY

IN THE RESEARC

H

4', 6-diamidino-2-phenylindole

(DAPI)

Toxic CAG triplet repeat

The early-stage

abnormalities

Scientists Used

to inhibit a

Improvement

SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGY

There are a number of neurological and neuromuscular inherited diseases whose molecular basis is the alteration in the RNA, that has repeated nucleotide units, usually in triplets.

The normal population shows these sequences repeated in a variable and relatively low number, but there is a limit for that the sequence tends to have mutations in the individual and upon the following generations.

The triplet repeat

The triplet repeat

The triplet repeat

The triplet repeat

Defective RNA

The triplet repeat

Normal RNA

OBSERVATION Molecular 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.

SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGY

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

Molecules

Act against

RNA defect

Designed 

Studying

Some defects of RNA are directly responsible for many diseases, one example is the most common form of muscular 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 MOLECULES AIMED AT TREATING MUSCULAR DYSTROPHY

Myotonic dystrophy type 1

RNA defect

"triplet repeat”A series of three

nucleotides repeated in an

individual's genetic code

the repetition of CUG in RNA sequence

DiseaseBinding to a particular

protein, MBNL1

Inactive

SCIENTISTS CREATE POTENT MOLECULES AIMED AT TREATING MUSCULAR DYSTROPHY

Involves

Known as a

Means 

In this case

Leads

By

Doing

SCIENTISTS CREATE POTENT MOLECULES AIMED AT TREATING MUSCULAR DYSTROPHY

Symptoms of this variable disease can include wasting of the muscles and other muscle problems, cataracts, heart defects, and hormone changes.

Defective RNA

Defective proteins

Myotonic dystrophMyotonic dystrophy type 1 y

type 1

OBSERVATION "There are limitless RNA targets involved in disease; the question is

how to find small molecules that bind to them, We've answered that question by rationally designing these compounds that target this RNA. There's no reason that other bioactive small molecules targeting other RNAs couldn't be developed using a similar approach.” Disney said. Science Daily (Febraury 22, 2012).

SCIENTISTS CREATE POTENT MOLECULES AIMED AT TREATING MUSCULAR DYSTROPHY

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 UTILITY

Molecular 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 UTILITY The 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 UTILITY

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.

It is important to note that to prevent this from occurring the DNA and RNA must be in perfect condition.

MEDICAL UTILITY Because the molecular biology

is related to the area of pathology, the molecular biology laboratory used diagnostic technologies and research to identify genetic mutations, laboratory confirmation and control of the development of pathologies. For this reason, I believe that biology is needed for reach a definitive diagnosis of what you have interest and future solutions to the 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).

THE END