This document summarizes several research studies on genetics and the human genome. It discusses how genome research allows for understanding of genetic backgrounds and disease susceptibility. One study identified that activating the NOTCH and AKT genes can trigger cholangiocarcinoma by reprogramming mature liver cells into bile duct cells. Researchers are exploring gene therapy and antibody treatments to target these disease-causing genes. While much remains to be learned, studies of the genome are providing insights into disease development and new treatment approaches.

1. ALEJANDRO POSADA
GARZON
MEDICINE ESTUDENT
III SEMESTER
TEACHER
LINA MARIA MARTINEZ
SANCHEZ
.
MOLECULAR BIOLOGY
MEDELLIN - COLOMBIA

4. The Human Genome is the
total number of chromosomes
in the body. The information
contained in the genes has
been decoded and allows
science knowledge by genetic
tests, what diseases a person
may suffer in your life.
Cholangiocarcinoma is a
cancerous (malignant) in
one of the tubes that carry
bile from the liver to the
small intestine.

5. Diagnosis and Intervention
prevention of in the disease
diseases
The human
genome has
three main
benefits
Study of the
susceptibility
to diseases

6. "We know, for example, that
only one to two percent of the
functional genome codes for
proteins, but that there are
highly conserved regions in the
genome outside of protein-
coding that affect genes and
disease development. It's clear
these regions do something or
they would have changed or
disappeared”

7. • Gene regulation encompasses all
processes that affect the action of a
gene at the level of translation or
transcription, regulating their
functional products.
• Misregulation of genes can result
in diseases like cancer.
• The researchers identified different
sequences that promote or start gene
activity, enhance its activity and define
where it occurs in the body during
development.

8. The authors showed that
this investigation was just
beginning, a partial picture
of the functional genome.
Additional studies will be
needed in other types of
cells and at different
stages of development.
"We've mapped and
understand 11 percent
of the genome," said
Ren. "There's still a
long way to march."

9. I believe the future that this research will
therefore have a clear objective and the
results obtained have been very convincing
and contributors. It seems very important,
since it is a breakthrough that supports and
strengthens the scientific studies about
gene therapy, in addition, these studies can
understand the genetic origins of many
diseases, understand their biochemical basis
and be defined accuracy from molecular
biology.

10. Cholangiocarcinoma is a cancerous
(malignant) in one of the ducts that
carry bile from the liver to the small
intestine, it was believed that it was
from abnormalities in cells of the bile
ducts, but in the study realized that
appeared when a type of liver cells are
transformed into an entirely different
type.

11. Scientists produced by damage to the hepatocytes to observe the process of
formation of hepatocellular carcinoma, but found the formation of a
cholangiocarcinoma. believed they had activated genes that reprogrammed
cells aberrant hepatocytes in bile, able to form tumors, the main suspects
were NOTCH and AKT.
Akt is a protein that can be Notch is a transmembrane
regulated through the tumor protein that serves as a
suppressor PTEN, which receptor for extracellular
functions essentially as the signals and involved in several
opposite of PI3K. signaling pathways during
development

12. Plasmid Cholangiocarcinome
They used plasmids as delivery vehicles for increasing levels of NOTCH
and AKT in the liver. Three weeks after injecting small growths observed
targets in the liver surface of mice, and five weeks after tumors had
spread through the liver. Hepatocytes tracked by a color and so showed
that cancer cells form tumors in the bile duct had actually begun as
hepatocytes.

13. Researchers long believed that
ceululas only had an address of
"maturation" of stem cells to
differentiated adult cells. In this
research, and in recent years
have shown that by acitvacion
of certain genes, the mature
cells can go back and be stem
cells, or even change to become
another type of specialized cell.

14. This research seems very important, as they are
learning the molecular origin of cholangiocarcinoma
and genes that lead to disease (Notch and AKT), which
is knowing you can reach a cure can also be
understood that the liver may not return only to
become stem cells, but also can become another cell
type, and this seems very important to study the
pathophysiology of alterations in the liver and biliary
tract.
antibodies are being used to treat the disease and are
being effective, "Preliminary results with therapeutic
antibodies are very encouraging." If encontran the
right formula, would be the respueta for a type of
incurable cancer.

15. Gene therapy is the introduction of
exogenous genetic material to an affected
cell to correct a disease, it adds a normal
functional gene to replace the abnormal
gene, gene therapy seeks a definitive cure of
diseases associated with product failures of
a gene due to abnormalities in DNA.
In order to perform gene therapy
procedures have to know very well the
biochemical and molecular principles of the
disease and the affected cell population for
this study using the human genome (a
process used in research).

16.  The study of the genome has many benefits for medical
help identify genes in DNA determines the nitrogenous
bases that make up the DNA, genome research to help
understand human molecules and genetic backgrounds,
all seen from molecular biology.

17. This research has great
medical utility as the
ease with which a cell
can be converted into
another, explains the
efficiency and speed of
many types of cancer.
This study also helps explain
another puzzle physician, that
the incidence of bile duct cancer
is higher in people with
hepatitis, since hepatitis was
believed that he had no action
on the biliary cells.

18. Having shown that Notch and
AKT are genes that trigger the
cancer process, the research
team are looking for therapies
for the disease, testing for
antibodies that may reduce the
activity of genes and halt or
reverse the growth of biliary
tract cancers .

19. Martinez S, Lina Maria. Biología Molecular. 5 ed Medellín: UPB. Fac
Medicina.
Researchers map significant portion of functional sequences of mouse genome.
News-medicals, july 2, 2012
Activating NOTCH and AKT gene may trigger cholangiocarcinoma. News-
medicals, july 17, 2012