Eukaryotic cells have their genetic material in the nucleus, in the other side, prokaryotes have it dispersed in the cytoplasm. From this DNA will be synthesized RNA, which will act as an intermediary, carrying genetic information from the nucleus to the ribosomes located in the cytoplasm to carry out protein synthesis. genetic code consists of 64 triplets (codons) of nucleotides, each codon encodes for one of the 20 amino-acids used in the synthesis of proteins. The study of the genetic code, allow s us identify mutations in specific genes, to detect diseases or predispositions to some pathologies such as those proposed by the articles, and with tan information, implement a PREVENTIVE MEDICINE. Knowing the sequence of genes that cause certain genetic diseases, is essential for GENE THERAPY branch. In brief it consist in introduce a correct copy of the defective gene that was visualized into the cells, by some vectors, previously studied. With the knowledge of genetic information, can be provided counseling before and after pregnancy to future parents (Give information about the diseases to which it is susceptible and existing treatments), having always instilled an ethical principle: THE HUMAN LIFE RESPECT. Promote investigation in medicine basic areas, such as cell biology, molecular biology, biochemistry and pharmacology, with the aim of implement humanity solutions .

1. MARÍA ALEJANDRA ARISTIZÁBAL GIRALDO
MOLECULAR BIOLOGY , FACULTY OF MEDICINE
FEBRUARY 9/ 2015

4. • Eukaryotic cells have their genetic material in the nucleus, in
the other side, prokaryotes have it dispersed in the
cytoplasm.
• From this DNA will be synthesized RNA, which will act as an
intermediary, carrying genetic information from the nucleus to
the ribosomes located in the cytoplasm to carry out protein
synthesis.
• genetic code consists of 64 triplets (codons) of nucleotides,
each codon encodes for one of the 20 amino-acids used in
the synthesis of proteins.
 .
ADN ARN
DOUBLE CHAIN SINGLE CHAIN
DEOXYRIBOSE RIBOSE
A, T, C, G A, U, C, G

5. A group of researchers identified that genetic mutations
in the gene encoding the protein “Titina” cause dilated
cardiomyopathy muscle, a condition in which the heart
becomes weakened and enlarged and as a result, can
not pump enough blood to the body.
However, many people have variations in the genetic
code that are completely benign
Date: January 14, 2015
Source: Imperial College London
Around one in 250 people are
estimated to have DCM..

6. NORMAL FUNCTION OF
THE TTN GENE
This protein plays an important role in
both muscles (cardiac and skeletal
muscles).
That one, interacts with other muscle
proteins, such as actin and myosin, to
keep the components of sarcomeres in
place as muscles contract and relax.
The mutations result is the production of a
short Titin protein. It is unclear how the
altered protein causes the pathology , but
we know alters sarcomere function and
disrupts chemical signaling
TITIN' GENE
MUTATIONS

7. 1. Sequenced the gene in
5267 persons, including
healthy and diseased
patients.
2. Analyzed the levels of Titin
in cardiac tissue.
3. Results showed that
mutations causing the
pathology occurs at the end
of the gene sequence, and
mutations in healthy
individuals tend to occur in
parts of the gene that are
not at the end of the protein,
allowing it to remain
functional Titin .
RESEARCHERS

8. Professor Stuart Cook, from the Medical Research Council (MRC) Clinical
Sciences Centre at Imperial College London, conclude the article with a
wonderful phrase:
"These results give us a detailed understanding of the molecular basis for
dilated cardiomyopathy. We can use this information to screen patients'
relatives to identify those at risk of developing the disease, and help them to
manage their condition early."

9. I think that having knowledge about genetic area
is wonderful, because we can study and prevent
pathologies, obviously respecting bioethics
principles that in brief is protect human dignity
and life.
We should investigated more about this
mutation and create ways to block the
expression at the end of the gene sequence to
decrease the morbidity and mortality cause by
dilated cardiomyopathy.

10. Date: January 21, 2015
Source: University of Southern California
Alzheimer's disease, autism and other
neurological conditions are progressive
and degenerative pathologies that implies
a brain cell destruction.
One of the principals causes is closely
related with genetic, it means gen
expressions.

11. The group (ENIGMA) identified eight
genetic variants, founded in one-fifth
of the world's population.
People who carry one of these eight
mutations showed smaller regions of
the brain than brains without
mutations.
A huge group of researchers examined
genetic code from 30.717 persons
distributed in 33 countries to check what
kind of genes affected the size of principal
parts of the brain.

12. The resonance images analysis
focused on seven regions of the
brain, where some functions such
as:
 coordinate movement
 learning
 memory
 Motivation;
Have role on.
A mutation in those genes , corroborated with
MCI, produce in your brain reserve an alteration
of 2 or 3 percent.

13. The authors claim that some of the genes
are involved in cancer and mental illness,
but don’t gave a satisfactory explanation.
The discovery could help to create
therapies and interventions for
neurological disease

14. I think that genetic code is a topic that required a
special attention, because the line between the
benefits and disadvantaged of having the control of
that information is very weak.
We should investigated more about this mutation, and try to
elaborate new medicines to safe brain cells.
But I hope that when the human been have the power of the
complete genetic code, the dignity, the rights and the life of the
human still being complete respect.

15. The study of the genetic code, allow s us identify mutations
in specific genes, to detect diseases or predispositions to
some pathologies such as those proposed by the articles,
and with tan information, implement a PREVENTIVE
MEDICINE.

16. Knowing the sequence of genes that cause certain genetic
diseases, is essential for GENE THERAPY branch. In brief it
consist in introduce a correct copy of the defective gene that was
visualized into the cells, by some vectors, previously studied.

17. With the knowledge of genetic information, can be provided counseling
before and after pregnancy to future parents (Give information about the
diseases to which it is susceptible and existing treatments), having
always instilled an ethical principle: THE HUMAN LIFE RESPECT.

18. Promote research and investigation
in medicine basic areas, such as cell
biology, molecular biology,
biochemistry and pharmacology, with
the aim of expanding medical
knowledge and implement humanity
solutions from each area of
knowledge.

19. • Martínez Sánchez, Lina María; Vargas Grisales, Natalia; Toro Montoya, Andrés
Eduardo; Pamplona Sierra, Ana Paulina; Queveda Orrego, Esteban. “Biología
molecular”. 7. ed. Medellín, Colombia. Editorial Universidad Pontificia Bolivariana,
2014. pp: 74-77
• University of Southern California. (2015, January 21). “Neuroscientists lead global
consortium to crack brain's genetic code”. ScienceDaily. Retrieved February 6,
2015 from www.sciencedaily.com/releases/2015/01/150121144839.htm
• Imperial College London. (2015, January 14). “'Titin' gene mutations will help
identify patients at risk of heart failure”. ScienceDaily. Retrieved February 6, 2015
from www.sciencedaily.com/releases/2015/01/150114143054.htm
• Images retrieved from www.google.com,
www.sciencedaily.com/releases/2015/01/150121144839.htm,
www.sciencedaily.com/releases/2015/01/150114143054.htm

20. In each medical act must be present respect
for the patient plus ethical and moral
concepts; then consciousness and science
are always on the same side, the side of
humanity
(René Gerónimo Favaloro)