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SCIENTISTS CREATE NOVEL RNA REPAIR TECHNOLOGY and SCIENTISTS CREATE POTENT MOLECULES AIMED AT TREATING MUSCULAR DYSTROPHY
1. ALEJANDRA VARGAS VELÁSQUEZ
MEDICINE STUDENT
III SEMESTER
Teacher, LINA MARÍA MARTÍNEZ SÁNCHEZ
BIOLOGY MOLECULAR
FEBRAURY 27, 2012
MEDELLÍN, COLOMBIA
2.
3.
4. DNA
RNA Health
I t c o mp l y
t h e c e n t r a l
Proteins d o g ma .
DNA
DISEASE
Al t e r e d
t h e
c e n t r a l RNA
d o g ma .
Proteins
5. SCI ENT I STS
CRE AT E NOV EL RNA
REPAI R
T E CHNOL OGY
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 “Expanded triplet
investigation repeat“
Three nucleotides that
Defective RNA repeated many more
times than normal in the
genetic code of affected
Causes individuals.
6. 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).
7. 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
8. SCIENTISTS CREATE NOVEL RNA REPAIR
TECHNOLOGY
The There are a number of
The triplet
triplet repeat neurological and neuromuscular
repeat
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 triplet
Defective 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.
9. SCIENTISTS CREATE NOVEL RNA REPAIR
TECHNOLOGY
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.
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.
10. SCIENTISTS CREATE POTENT
MOLECULES AIMED AT
TREATING MUSCULAR
DYSTROPHY
Act against
Molecules RNA
d e f e c t
Designed Studying
11. SCIENTISTS CREATE POTENT MOLECULES
AIMED AT TREATING MUSCULAR DYSTROPHY
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.
12. SCIENTISTS CREATE POTENT MOLECULES
AIMED AT TREATING MUSCULAR DYSTROPHY
Binding to a
Myotonic 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 individual's
genetic code
13. SCIENTISTS CREATE POTENT MOLECULES
AIMED AT TREATING MUSCULAR DYSTROPHY
Defective 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, heart
Defective defects, and hormone
proteins changes.
14. SCIENTISTS CREATE POTENT MOLECULES
AIMED AT TREATING MUSCULAR DYSTROPHY
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).
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.
15. 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.
16. 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.
17. MEDICAL UTILITY
It is important to note
that to prevent this
from occurring the
DNA and RNA must
be in perfect
condition.
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.
18. 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.
19. 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).