MARÍA ALEJANDRA ARISTIZÁBAL GIRALDO

MOLECULAR BIOLOGY , FACULTY OF MEDICINE

FEBRUARY 9/ 2015

• 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

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..

NORMAL FUNCTION OF

THE TTN GENEThis 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

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

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."

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.

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.

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.

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.

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

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.

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 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.

• 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

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)