1. Laura Maria Moreno León
Medical student
UPB
2013

2. Molecular biology
Medical student
3° Semester
Teacher
Lina Maria Martinez.
Agosto 26- 2013
Medellin, Colombia
Bibliography
Medical Utility
For many years along with the advance of science
It has tried to find effective treatments and
determinative to ending with many diseases that
afflicting humanity. It is for this reason that
studying gene transcription we can have results
very valuable to meet this great goal.
the definition of Dr. Polychronakos about
transcription is very clear: “ DNA is the blueprint
according to which our body is constructed and
functions. Cells "read" this blueprint by
transcribing the information into RNA, which is
then used as a template to construct proteins --
the body's building blocks. Genes are scanned
based on the association of their RNA with
ribosomes -- particles in which protein synthesis
takes place” This definition helps us understand
that transcription is the first step and one of the
most important for gene expression and along with
this the production of proteins in translation.
Through these studies, we can now better
understand the effect of genetic variants in the
translation of RNA to protein and thus to find an
effective way to develop new treatments for
various diseases.
Moreover the discovery of transcription factor
HLH-30 looks very promising for modern medicine
because this modulate the autophagy. It is
activated under conditions of absence of nutrients,
allowing cells to degrade proteins and organelles
to components that can be reused, so that
autophagy plays an important role in development
and cellular growth. There are also closely related
diseases with defects in autophagy like
neurodegenerative diseases and cancer, so I find
the transcription factor HLH-30 is very important
to increase cellular longevity and correct errors in
the coding of proteins that can cause disease.
Laura Maria Moreno León
Transcription
• COOPER, GM. La celula. Cuarta
edicion. Madrid, Espana. Marban,
2008. 113, 348 p.
•MARTINEZ SANCHES, Lina María.
Biología Molecular. Septima edicion.
Medellin, Colombia. UPB, facultad de
medicina 2012. 89-96 p.

3. Key protein that modulated organismal
aging identified
Science Daily (Aug. 8, 2013)
Scientists at Sanford-Burnham Medical Research Institute have identified a
key factor that regulates the autophagy process, a kind of cleansing
mechanism for cells in which waste material and cellular debris is gobbled
up to protect cells from damage, and in turn, modulates aging. The
findings, published in Nature Communications today, could lead to the
development of new therapies for age-related disorders that are
characterized by a breakdown in this process. Malene Hansen, Ph.D.,
associate professor in Sanford-Burnham's Del E. Webb Center for
Neuroscience, Aging and Stem Cell Research, and her team as well as
collaborators found a transcription factor -- an on/off switch for genes --
that induces autophagy in animal models, including the nematodeC.
elegans, the primary model organism studied in the Hansen lab. This
transcription factor, called HLH-30, coordinates the autophagy process by
regulating genes with functions in different steps of the process. Two years
ago, researchers discovered a similar transcription factor, or orthologue,
called TFEB that regulates autophagy in mammalian cells.
"HLH-30 is critical to ensure longevity in all of the long-lived C.
elegans strains we tested," says Hansen. "These models require active HLH-
30 to extend lifespan, possibly by inducing autophagy. We found this
activation not only in worm longevity models, but also in dietary-restricted
mice, and we propose the mechanism might be conserved in higher
organisms as well."
HLH-30 is the first transcription factor reported to function in all known
autophagy-dependent longevity paradigms, strengthening the emerging
concept that autophagy can contribute to long lifespan. In a previous
study, Hansen and her colleagues discovered that increased autophagy has
an anti-aging effect, possibly by promoting the activity of an autophagy-
related, fat-digesting enzyme. With these findings, scientists now know a
key component of the regulation of autophagy in aging.
Hansen's team is now working to find therapeutic targets, particularly
upstream kinases, molecules that change protein function, which might
actually phosphorylate the transcription factor to alter its function. "We
already have a clue about the protein TOR, a master regulator that
influences metabolism and aging in many species, but there might be other
kinases that regulate HLH-30 or TFEB activity as well," says lead study
author Louis René Lapierre, Ph.D., a postdoctoral fellow in Hansen's
laboratory, and a recent recipient of a K99/R00 Pathway to Independence
career award from the National Institutes of Health.
Autophagy has become the subject of intense scientific scrutiny over the
past few years, particularly since the process -- or its malfunction -- has
been implicated in many human diseases, including cancer, Alzheimer's, as
well as cardiovascular disease and neurodegenerative disorders. HLH-30
and TFEB may represent attractive targets for the development of new
therapeutic agents against such diseases
Understanding the effects of genes on
Human traits
Science Daily ( July 31, 2013)
Recent technological developments in genomics have revealed a
large number of genetic influences on common complex
diseases, such as diabetes, asthma, cancer or schizophrenia.
However, discovering a genetic variant predisposing to a disease
is only a first step. To apply this knowledge towards prevention
or cure, including tailoring treatment to the patient’s genetic
profile –also know as personalized medicine- we need to know
as personalized medicine- we need to know how this genetic
variant affects health.
In a study published today in Nature communications, Dr.
Constantin Polychronakos from the Research Institute of the
McGill University and The University Centre, and collaborators
from McGill University and The university of Texas, propose a
novel approach for scanning the entire genome that will help us
understand the effect of genes on human traits.
“ This completely new methodology really opens up different
ways of understanding how the genome affects the biology of
the human body,” says Dr. Polychronakos, corresponding author
of the study and Director of the Endocrine Genetics Laboratory
at the Montreal Children’s Hospital and Professor in the
Department of Pediatrics and human Genetics at McGill
University.
DNA is the blueprint according to which our body is constructed
and functions. Cells “read” this blueprint by transcribing the
information into RNA, which is then used as a template to
construct proteins –the body's buildings blocks. Genes are
scanned based on the association of their RNA with ribosome –
particles in which protein synthesis takes place.
“ until now, researchers have been focusing on the effects of
disease- associated genomic variants on DNA-to- RNA
transcription, instead of the challenging question of effects on
RNA to protein translation,” says Dr. Polychronakos. “Thanks to
this methodology, we can now better understand the effects of
genetic variants on translation of RNA to protein – a powerful
way of developing biomarkers for personalized and new
therapies”
Introduction
In 2006 Roger David Kornberg won the
Nobel Prize in chemistry for describing
the structure of RNA polymerase
enzyme complex, important enzymes
in gene transcription in eukaryotes,
because the DNA used as a template to
synthesize RNA.
As mentioned above transcription is a
very important factor in genetic
expression, because molecules of RNA
are synthesized from molds of DNA and
proteins were synthesized from molds
DNA, in translation. La transcription is
made thanks to enzymes RNA
polymerases.
In this folding we can read about two
current news of how transcription of
DNA to RNA and as the final synthesis
of proteins can be a key factor in the
creation of new treatments definitely
ending with common diseases such as
cancer or diabetes, that although
there is great variety of treatments to
control it, the science can not to find a
cure, until this moment.
.
I find it very interesting and important to know our
genome and to know how it affects the biology of
our body, because we can prevent or to cure
diseases that are common in our environment but
difficult to treat it.
I
I think that autophagy is an important mechanism in cell
growth and development, and discovering of the factor
HLH- 30 that regulates autophagy leads us to a very
important step in finding the formula for ¨eternal youth¨
or at least to be able to cure diseases that only until this
moment it have been controlled.

4. INTRODUCCION:
In 2006 Roger David Kornberg won the Nobel Prize in
chemistry for describing the structure of RNA
polymerase enzyme complex, important enzymes in
gene transcription in eukaryotes, because the DNA
used as a template to synthesize RNA.
As mentioned above transcription is a very
important factor in genetic expression, because
molecules of RNA are synthesized from molds of DNA
and proteins were synthesized from RNA molds in
translation. La transcription is made thanks to
enzymes arn polymerases.
In this folding we can read about two current
news of how transcription of DNA to RNA and as the
final synthesis of proteins can be a key factor in the
creation of new treatments definitely ending with
common diseases such as cancer or diabetes, that
although there is great variety of treatments to
control it, the science can not to find a cure, until
this moment.
There are three types of RNA
polymerases in eukaryotics. RNA
polymerase I transcribes the
three larger molecules rRNA
(28S, 18S and 5.8S), RNA
polymerase II transcribes protein
coding genes to producer mRNA
and finally RNA polymerase III
transcribes genes encoding tRNA
and 5S rRNA.
The transcription has three
phases: Iniciation,
enlongation and termination

5. Understanding the effects of
genes on Human traits
Science Daily ( July 31, 2013)
Recent technological developments in genomics have revealed a
large number of genetic influences on common complex diseases,
such as diabetes, asthma, cancer or schizophrenia. However,
discovering a genetic variant predisposing to a disease is only a
first step. To apply this knowledge towards prevention or cure,
including tailoring treatment to the patient’s genetic profile –also
know as personalized medicine- we need to know as personalized
medicine- we need to know how this genetic variant affects
health.
In a study published today in Nature communications, Dr.
Constantin Polychronakos from the Research Institute of the
McGill University and The University Centre, and collaborators
from McGill University and The university of Texas, propose a
novel approach for scanning the entire genome that will help us
understand the effect of genes on human traits.
“ This completely new methodology really opens up different ways
of understanding how the genome affects the biology of the
human body,” says Dr. Polychronakos, corresponding author of the
study and Director of the Endocrine Genetics Laboratory at the
Montreal Children’s Hospital and Professor in the Department of
Pediatrics and human Genetics at McGill University.
DNA is the blueprint according to which our body is constructed
and functions. Cells “read” this blueprint by transcribing the
information into RNA, which is then used as a template to
construct proteins –the body's buildings blocks. Genes are scanned
based on the association of their RNA with ribosome –particles in
which protein synthesis takes place.
“ until now, researchers have been focusing on the effects of
disease- associated genomic variants on DNA-to- RNA
transcription, instead of the challenging question of effects on
RNA to protein translation,” says Dr. Polychronakos. “Thanks to
this methodology, we can now better understand the effects of
genetic variants on translation of RNA to protein – a powerful way
of developing biomarkers for personalized and new therapies”
I find it very interesting and important to know
our genome and to know how it affects the
biology of our body, because we can prevent or
to cure diseases that are common in our

6.  Personalized medicine studies to each individual and
their genetic code to prevent disease or if you already
have a diseases to find the most appropriate
treatment, because it has been found that most
diseases have a great genetic influence, so that gene
transcription plays a role very important because it is
this that is responsible for replicating DNA, with all
the genetic information good or bad that it can carry.

7.  Diabetes, asthma, cancer or schizophrenia are
diseases that they have a genetic influence, it is
transmitted through DNA that parents transmit to
their children.
 Some diseases can prevent such as diabetes, but
in most cases, we are destined to suffer it. So if
we want to understand it, we have to study the
transcript of our genes, Maybe the science would
correct these problems and we have a much
healthier life.

8.  Dr. Constantin Polychronakos
proposes a new approach for
scanning the entire genome
that will help us understand
the effect of genes on human
traits.

9. I find it very interesting and
important to know our genome
and to know how it affects the
biology of our body, because
we can prevent or to cure
diseases that are common in
our environment but difficult
to treat it

10. Key protein that modulated organismal
aging identified
Science Daily (Aug. 8, 2013)
Scientists at Sanford-Burnham Medical Research Institute have identified a
key factor that regulates the autophagy process, a kind of cleansing
mechanism for cells in which waste material and cellular debris is gobbled
up to protect cells from damage, and in turn, modulates aging. The
findings, published in Nature Communications today, could lead to the
development of new therapies for age-related disorders that are
characterized by a breakdown in this process. Malene Hansen, Ph.D.,
associate professor in Sanford-Burnham's Del E. Webb Center for
Neuroscience, Aging and Stem Cell Research, and her team as well as
collaborators found a transcription factor -- an on/off switch for genes --
that induces autophagy in animal models, including the nematodeC.
elegans, the primary model organism studied in the Hansen lab. This
transcription factor, called HLH-30, coordinates the autophagy process by
regulating genes with functions in different steps of the process. Two years
ago, researchers discovered a similar transcription factor, or orthologue,
called TFEB that regulates autophagy in mammalian cells.
"HLH-30 is critical to ensure longevity in all of the long-lived C.
elegans strains we tested," says Hansen. "These models require active HLH-
30 to extend lifespan, possibly by inducing autophagy. We found this
activation not only in worm longevity models, but also in dietary-restricted
mice, and we propose the mechanism might be conserved in higher
organisms as well."
HLH-30 is the first transcription factor reported to function in all known
autophagy-dependent longevity paradigms, strengthening the emerging
concept that autophagy can contribute to long lifespan. In a previous
study, Hansen and her colleagues discovered that increased autophagy has
an anti-aging effect, possibly by promoting the activity of an autophagy-
related, fat-digesting enzyme. With these findings, scientists now know a
key component of the regulation of autophagy in aging.
Hansen's team is now working to find therapeutic targets, particularly
upstream kinases, molecules that change protein function, which might
actually phosphorylate the transcription factor to alter its function. "We
already have a clue about the protein TOR, a master regulator that
influences metabolism and aging in many species, but there might be other
kinases that regulate HLH-30 or TFEB activity as well," says lead study
author Louis René Lapierre, Ph.D., a postdoctoral fellow in Hansen's
laboratory, and a recent recipient of a K99/R00 Pathway to Independence
career award from the National Institutes of Health.
Autophagy has become the subject of intense scientific scrutiny over the
past few years, particularly since the process -- or its malfunction -- has
been implicated in many human diseases, including cancer, Alzheimer's, as
well as cardiovascular disease and neurodegenerative disorders. HLH-30
and TFEB may represent attractive targets for the development of new
therapeutic agents against such diseases
I
I think that autophagy is an important mechanism in cell
growth and development, and discovering of the factor
HLH- 30 that regulates autophagy leads us to a very
important step in finding the formula for ¨eternal youth¨
or at least to be able to cure diseases that only until this
moment it have been controlled.

11.  Scientists identified a key
factor that regulates the
autophagy process.
 Autophagy is a a kind of
cleansing mechanism for
cells in which waste
material and cellular
debris is gobbled up to
protect cells from
damage, and in turn,
modulates aging.

12.  Scientists found in nematodeC. Elegans, that
is a animal model a transcription factor,
called HLH-30, this coordinates the
autophagy process by regulating genes with
functions in different steps of the process.

13.  Being able to control
autophagy with factor
HLH-30 is a big step
because it is known that
autophagy has an anti-
aging effect.
 Autophagy´s Malfunction
also has been implicated
in many human diseases,
including cancer,
Alzheimer's disease ,
cardiovascular disease and
neurodegenerative
disorders, so HLH-30 and
TFEB may be represent
attractive targets for the
development of new
therapeutic agents against
these diseases
This shows the nuclear localization of HLH-
30/TFEB in C. elegans. (Credit: Sanford-
Burnham Medical Research Institute)

14. I think that autophagy is an important
mechanism in cell growth and
development, and discovering of the
factor HLH- 30 that regulates autophagy
leads us to a very important step in
finding the formula for ¨eternal youth¨
or at least to be able to cure diseases
that only until this moment it have been
controlled.

15. Medical Utility
For many years along with the advance of science It has tried to find
effective treatments and determinative to ending with many diseases
that afflicting humanity. It is for this reason that studying gene
transcription we can have results very valuable to meet this great
goal.
the definition of Dr. Polychronakos about transcription is very clear: “
DNA is the blueprint according to which our body is constructed and
functions. Cells "read" this blueprint by transcribing the information
into RNA, which is then used as a template to construct proteins -- the
body's building blocks. Genes are scanned based on the association of
their RNA with ribosomes -- particles in which protein synthesis takes
place” This definition helps us understand that transcription is the first
step and one of the most important for gene expression and along with
this the production of proteins in translation. Through these studies,
we can now better understand the effect of genetic variants in the
translation of RNA to protein and thus to find an effective way to
develop new treatments for various diseases.
Moreover the discovery of transcription factor HLH-30 looks very
promising for modern medicine because this modulate the autophagy.
It is activated under conditions of absence of nutrients, allowing cells
to degrade proteins and organelles to components that can be reused,
so that autophagy plays an important role in development and cellular
growth. There are also closely related diseases with defects in
autophagy like neurodegenerative diseases and cancer, so I find the
transcription factor HLH-30 is very important to increase cellular
longevity and correct errors in the coding of proteins that can cause
disease.

16.  It is a medical breakthrough to know
the genes and their impact on diseases
and their treatments that are very
common these days in order to provide
a better solution to patients.

17.  The protein HLH- 30 that modulates autophagy is a great
discovery because with this we can find methods to
intervene directly in autophagy and we could correct
genetic defects and deseases in everybody.

18. In both news we can see how if we
intervene directly in the transcription
process, we can get excellent results to
treat each patient according to their
needs and it is not as it has been doing
all these years with ineffective treatment
that is applied to anyone regardless of
their genome.

19.  COOPER, GM. La célula. Cuarta edición. Madrid, España. Marban, 2008. 113,
348 p.
 MARTINEZ SANCHES, Lina María. Biología Molecular. Séptima edición.
Medellín, Colombia. UPB, facultad de medicina 2012. 89-96 p.
 Key protein that modulated organismal aging identified
Science Daily (Aug. 8, 2013)
 Understanding the effects of genes on Human traits
Science Daily ( July 31, 2013).