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Enzyme reverses stalled
transcription machinery to aid
DNA repair.
Genetic cause of Lupus found.

Ana María Parada Pérez
III semester student
UPB
Introduction
Recently science is progressing every
day looking for solutions for different
problems like in those investigations
that include mutation in DNA repair
mechanism that express different
pathologies like Lupus and a positive
announcement is a new protein that
can help to identify the DNA mistakes.
The Molecular biology acting in the
genome gives us the possibility to find
new problems, to prevent them and to
find new solutions to improve the
quality of life.
Enzyme Reverses Stalled
Transcription Machinery to Aid
DNA Repair

A new enzyme with an helicase/translocase
activity has an important role helping the RNA
polymerase
backtrack
facilitating
its
transcriptional role and helping in nucleotide
excision repair that as we know if that
mechanism is not working fine, can bring us
serious consequences.

January 21, 2014
Enzyme Reverses Stalled
Transcription Machinery to Aid
DNA Repair
The UvrD enzyme was
The UvrD enzyme was
E.Coli one of the most
E.Coli one of the most
models for experiments.
models for experiments.

found in
found in
important
important

The function of this enzyme is to pull
The function of this enzyme is to pull
backward the RNA polymerase
backward the RNA polymerase
exposing the problem in the DNA
exposing the problem in the DNA
strand to be repaired and facilitate a
strand to be repaired and facilitate a
perfect transcription.
perfect transcription.
Enzyme Reverses Stalled
Transcription Machinery to Aid
DNA Repair
The analog of UvrD protein in
humans is a protein known as
XPB that has a similar action
mechanism.
That protein has been linked to
some
pathologies
like
xeroderma
pigmentosum,
Cockayne
syndrome,
and
trichothiodystrophy
Enzyme Reverses Stalled
Transcription Machinery to Aid
DNA Repair
As conclusión the research affirms
As conclusión the research affirms
that UvrD facilitates nucleotide
that UvrD facilitates nucleotide
excision repair by pulling RNA
excision repair by pulling RNA
polymerase backward from the DNA
polymerase backward from the DNA
lesion without causing termination
lesion without causing termination
giving perfection to the transcription
giving perfection to the transcription
process
process and
and improving
improving the
the
expression of the genome.
expression of the genome.
Student´s Observation
All this discovery has an important
meaning because everything that
include perfection in the DNA
progress can be translated in less
diseases that have origin there. That
perfection can be translated in a
better reparation system, less
mutations and like the genome is
the base of the cell life can be a
bigger step to start looking for the
relation with illnesses like cancer
and how it can be treated and
prevented.
Genetic cause of Lupus
found.
The Discovery started with an
interesting question: How
DNA repair mechanism can
identify what segment has
the mistake to be repaired?
And trying to answer found a
genetic cause of lupus, an
autoimmune disease without
solution yet and a specific
origin.

January 9, 2014
Genetic cause of lupus found

The experiment begun with the
intention to see how the DNA
repair
mechanism
could
distinguish between good or bad
bases. To do it the researchers
made a mutation in the DNA
repaid gene POLB in mice.
Genetic cause of lupus found
The researchers were waiting to
see cancer symptoms but instead
they start to notice Lupus
symptoms, something that was
totally unexpected for them but an
important discovery.
Going further they found high
levels of antinuclear antibodies,
one of the most important Lupus
markers.
Genetic cause of lupus found
According to researchers the high
levels of antinuclear antibodies are
generated for the mutated POLB
gene that was creating antibodies
that can attack the own mice
cells.
This
important
announcement
opened a lot of question for the
scientific community but the reasons
why the mice developed t the Lupus
aren´t certain but the genetic
mutation in the DNA reparation
systems is probably the reason.
Student´s observation

Personally I think that this is a huge advancement in science, to find a
genetic mutation that could develop Lupus because this a disease that
has no cure but if we start to discover the possible causes new treatments
could be invented, some treatments less abrasive for the patients giving
steps to finally find the cure and the possible preventions to avoid the
illness.
Medical Utility
These announcements are very
important because they open
the doors to keep being focused
on the DNA and the process
that happen to generate some
changes that can influence in
the quality life around the world.
Medical Utility
The first news talk about a new way to get perfection in the DNA process and how
a human protein can be included to get it. Also the relation of this proteins with
serious pathologies like xeroderma pigmentosum and others that have there origin
in the fail of DNA repair mechanism is a new way to give more participants in the
explanation to the illness and starting from that start to look how in a closer future
those pathologies could be treated and prevented .
Medical Utility

In the case of the discovery of a genetic cause of Lupus thiis a really important
announcement because Lupus is an illness that has an incidence of 1.5 million
Americans and has incidence change depending the zone. This illness has a lot of
abrasive sings and symptoms to the patient so the oportunity to find why someone
can develop thit disease has a huge medical utility.
Medical Utility
Actually the treatment of this illness is
really agressive because it committs a
lot of organs so to find a molecular
reason of the illness is a really
important way to find treatments less
toxic that maybe could give to the
patient a hope to live a normal life
avoiding secondary effects that could
bring the treatments actually used
and keep looking for a way to cure
totally the illness.
Both news previously mentioned
have a medical utility because they
are the beginning of a new way to
improve patients life.
Bibliography

• yaledailynews.com [Internet]. New Haven: Kimmelman, 
2014 [updated 21 feb 2014, cited 22 feb 2014] Avalaible 
from:
http://yaledailynews.com/blog/2014/01/21/genetic-cause-of-lupus-fo

• genengnews.com [Internet]. Place unknown: Publiser 
unknown, 2014 [update date unknown, cited 22 feb 
2014] Avalaible from:
http://www.genengnews.com/gen-news-highlights/enzyme-reverses 
Plegable biomol Ana Maria Parada Pérez.

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Plegable biomol Ana Maria Parada Pérez.

  • 1. Enzyme reverses stalled transcription machinery to aid DNA repair. Genetic cause of Lupus found. Ana María Parada Pérez III semester student UPB
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  • 4. Introduction Recently science is progressing every day looking for solutions for different problems like in those investigations that include mutation in DNA repair mechanism that express different pathologies like Lupus and a positive announcement is a new protein that can help to identify the DNA mistakes. The Molecular biology acting in the genome gives us the possibility to find new problems, to prevent them and to find new solutions to improve the quality of life.
  • 5. Enzyme Reverses Stalled Transcription Machinery to Aid DNA Repair A new enzyme with an helicase/translocase activity has an important role helping the RNA polymerase backtrack facilitating its transcriptional role and helping in nucleotide excision repair that as we know if that mechanism is not working fine, can bring us serious consequences. January 21, 2014
  • 6. Enzyme Reverses Stalled Transcription Machinery to Aid DNA Repair The UvrD enzyme was The UvrD enzyme was E.Coli one of the most E.Coli one of the most models for experiments. models for experiments. found in found in important important The function of this enzyme is to pull The function of this enzyme is to pull backward the RNA polymerase backward the RNA polymerase exposing the problem in the DNA exposing the problem in the DNA strand to be repaired and facilitate a strand to be repaired and facilitate a perfect transcription. perfect transcription.
  • 7. Enzyme Reverses Stalled Transcription Machinery to Aid DNA Repair The analog of UvrD protein in humans is a protein known as XPB that has a similar action mechanism. That protein has been linked to some pathologies like xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
  • 8. Enzyme Reverses Stalled Transcription Machinery to Aid DNA Repair As conclusión the research affirms As conclusión the research affirms that UvrD facilitates nucleotide that UvrD facilitates nucleotide excision repair by pulling RNA excision repair by pulling RNA polymerase backward from the DNA polymerase backward from the DNA lesion without causing termination lesion without causing termination giving perfection to the transcription giving perfection to the transcription process process and and improving improving the the expression of the genome. expression of the genome.
  • 9. Student´s Observation All this discovery has an important meaning because everything that include perfection in the DNA progress can be translated in less diseases that have origin there. That perfection can be translated in a better reparation system, less mutations and like the genome is the base of the cell life can be a bigger step to start looking for the relation with illnesses like cancer and how it can be treated and prevented.
  • 10. Genetic cause of Lupus found. The Discovery started with an interesting question: How DNA repair mechanism can identify what segment has the mistake to be repaired? And trying to answer found a genetic cause of lupus, an autoimmune disease without solution yet and a specific origin. January 9, 2014
  • 11. Genetic cause of lupus found The experiment begun with the intention to see how the DNA repair mechanism could distinguish between good or bad bases. To do it the researchers made a mutation in the DNA repaid gene POLB in mice.
  • 12. Genetic cause of lupus found The researchers were waiting to see cancer symptoms but instead they start to notice Lupus symptoms, something that was totally unexpected for them but an important discovery. Going further they found high levels of antinuclear antibodies, one of the most important Lupus markers.
  • 13. Genetic cause of lupus found According to researchers the high levels of antinuclear antibodies are generated for the mutated POLB gene that was creating antibodies that can attack the own mice cells. This important announcement opened a lot of question for the scientific community but the reasons why the mice developed t the Lupus aren´t certain but the genetic mutation in the DNA reparation systems is probably the reason.
  • 14. Student´s observation Personally I think that this is a huge advancement in science, to find a genetic mutation that could develop Lupus because this a disease that has no cure but if we start to discover the possible causes new treatments could be invented, some treatments less abrasive for the patients giving steps to finally find the cure and the possible preventions to avoid the illness.
  • 15. Medical Utility These announcements are very important because they open the doors to keep being focused on the DNA and the process that happen to generate some changes that can influence in the quality life around the world.
  • 16. Medical Utility The first news talk about a new way to get perfection in the DNA process and how a human protein can be included to get it. Also the relation of this proteins with serious pathologies like xeroderma pigmentosum and others that have there origin in the fail of DNA repair mechanism is a new way to give more participants in the explanation to the illness and starting from that start to look how in a closer future those pathologies could be treated and prevented .
  • 17. Medical Utility In the case of the discovery of a genetic cause of Lupus thiis a really important announcement because Lupus is an illness that has an incidence of 1.5 million Americans and has incidence change depending the zone. This illness has a lot of abrasive sings and symptoms to the patient so the oportunity to find why someone can develop thit disease has a huge medical utility.
  • 18. Medical Utility Actually the treatment of this illness is really agressive because it committs a lot of organs so to find a molecular reason of the illness is a really important way to find treatments less toxic that maybe could give to the patient a hope to live a normal life avoiding secondary effects that could bring the treatments actually used and keep looking for a way to cure totally the illness. Both news previously mentioned have a medical utility because they are the beginning of a new way to improve patients life.