Noticia acerca de replicación de información gen´tica

1. PRESCRIBING SPLICING AND NEW STUDY
EXAMINES THE METHYLOME OF TRIPLE-
NEGATIVE BREAST CANCER
MARY LUZ BOHORQUEZ TORRES
medicine student
3RD SEMESTER

4. INTRODUCTION
 Approach any form of diseases should be first
preventing it , for this in the field of research have
developed models for the prevention of some
diseases.
 accordingly studies mentioned today are the ability to
prevent disease through molecular biology . the first
shows that using mathematical machinery and
equipment can be discovered variations in the RNA
splicing that generates genetic variations in the drawn
order at this develop pathologies . The second study
is to sort and display the methylation of DNA in breast
cancer to recoating time the disease and is a
breakthrough for the next prevention for future babies
who may suffer this disease.
INTRODUCTION
In This presentation will show two
studies that linking the
importance about the molecular
biology in the medicine such in
practice as in the research.
The first studie it´s about a
prescribing splicing and how Xiong
et al realized a advance to predicts
the variations caused in the RNA
splicing keeping in mind features
which be able to predicts the
pathologies according individual
genomic sequence.
The second studie it is about new
searching of methylome (ADN
methylated) of triple-negative
breast cancer which was compared
with healthy DNA to reveals distinct
Methylation patterns in breast
cancer cells indicating better or
worse prognosis.

5.  splicing is a modification of the nascent pre-messenger RNA (pre-
mRNA) transcript in which introns are removed and exons are
joined. This process realized for obtain a RNAm mature who can
keep moving with the DNA translate and transcription.
PRESCRIBING SPLICING
9 january, 2015

6.  when there is a variation in the DNA sequence
can be generated for many reasons including
variation in the sequence of mRNA splicing,
when this occurs a mutation is generated in the
code for the production of proteins
PRESCRIBING SPLICING
DNA sequences variations can
influence wrong translation and
generate non functional proteins; It is
beacuse of this that Xiong et al in silico
predicted the effects in variation
sequence on pre-RNAm splicing. Xiong
et al in the mechanical model took into
account differents features for find out
with accuracy the individual proteins
encode through determination of
wrong Exon inlcusion and the introns
mutations. This causes can affecting
health but with this Project the people
may be able know some disease.
Student observation
This Project will can be a society tool to
foresee and prevent pathologies related
gene expression and its alterations is
also the first step to continue searching
on these modification and prevent
serious diseases , heritable and
mutagenic
PRESCRIBING SPLICING
9 january, 2015

7.  the mutagenic RNA expression mostly often
produces pathologies, an example is spinal
muscular atrophy and autism.
 through this study can be viewed
and prevent these diseases
PRESCRIBING SPLICING
9 january, 2015

8. obtaining the results of this studies was made
through algebra and using sophisticated
machine-learning approach that generate a
mathematical model to predict the number of
exons including considering the tissue in which it
is located. The intron mutation also accurately
predict individually for some diseases
PRESCRIBING SPLICING
9 january, 2015

9. Student observation
This Project will can be a society tool to foresee
and prevent pathologies related gene
expression and its alterations is also the first
step to continue searching on these modification
and prevent serious diseases, heritable and
mutagenic
PRESCRIBING SPLICING
9 january, 2015

10. New study examines the methylome of
triple-negative breast cancer
3 february,2015
 DNA methylation is given by
the inclusion of a methyl into
cytosine level that allows
modifying the sequence and
generate group alteration of
some processes.

11.  the methylation of DNA can be visualized in breast
cancer which could indicate a better or worse diagnosis
, so can be associated with states of cancer and if you
can find on time advancing cancer is prevented
New study examines the methylome of
triple-negative breast cancer
3 february,2015

12.  The term epigenetics refers to heritable changes
in gene expression (active versus inactive genes)
that does not involve changes to the
underlying DNA sequence; a change
in phenotype without a change in genotype.
 the methylome is classified in epigenetics and in this studie developed
the methodology to sequence the methylome using DNA extracted
from the archived tissue blocks which was comparate with healthy
samples
New study examines the methylome of
triple-negative breast cancer
3 february,2015

13.  researchers of this study believe
that in the future could determine
changes ( methylation ) in the
DNA sequence according to the
specific cancer and this allows
genetic studies relate to diseases
that are the future to prevent
cancer in future generations
New study examines the methylome of
triple-negative breast cancer
3 february,2015NEW STUDY EXAMINES THE
METHYLOME OF TRIPLE-NEGATIVE
BREAST CANCER
Triple negative breast cancers is when in
the three receptors translation(oestrogen,
progesterone or HER2) are added in the
ADN sequence a Methyl group that
would make them responsive to targeted
drugs.
Researchers Professor Susan Clark, Dr
Clare Stirzaker and Dr Elena Zotenko
established this study in order to classify
the triple-negative breast cancer and
provide a breakthrough in epigenetics.
Student observation
for each disease is necessary to know the
cause to treat the disease , symptoms
and eventually cure , so it is essential to
conduct genetic studies as methylome of
breast cancer not only for research but
also to treat and heal.

14. for each disease is necessary to know the
cause to treat the disease , symptoms and
eventually cure , so it is essential to
conduct genetic studies as methylome of
breast cancer not only for research but also
to treat and health
New study examines the methylome of
triple-negative breast cancer
3 february,2015
Student observation

15. MEDICAL UTILITY
 Learn and apply in the medical
practice how the splicing
process can generate a
pathological conditions and as
from this predicts the effects of
sequence variations in the
genome code.

16.  Learn about the process
denominated splicing
and know using this
knowledge in the
medicine practice for
the pathologies relative
directly with the
funcionality of RNA
splicing.
MEDICAL UTILITY

17.  Learn to manage breast cancer from
the genetic variations such as
methylation of the receptors and
produce a treatment given these
variables.
MEDICAL UTILITY

18.  The era of molecular biology and genetics with
developments, studies and researching have facilited
the medical practice because contributed to
knowledge about disease and allows the diagnostic of
pathologics for prompt treatment .
MEDICAL UTILITY

19. REFERENCES
 · MARTINEZ SÁNCHEZ, LINA MARÍA. Biología molecular. septima
ed. Medellín: UPB. Fac. de Medicina, 2012. 78-101 pp.
 · GUIOGO, RODERIC; VALCÁRCEL, JUAN. Prescribing Splicing.
Journal science, vol 347 issue 6218, Barcelona, Spain.2015. 124-
125 pp
 · CLARK,SUSAN;STIRZAKER ,CLARE; ZOTENKO, ELENA. Sydney's
Garvan Institute of Medical Research. New study examines the
methylome of triple-negative breast cancer. “www.news-
medical.net/news/20150203/New-study-examines-the-
methylome-of-triple-negative-breast-cancer.aspx”