UPB MOLECULAR JOURNALJUAN CARLOS AGUDELO JIMENEZ

MEDICINE STUDENID 000149094128/03/2011

INTRODUCTION

The gene is the basic unit of heredity,and is also a segment of DNA witchcontains all the information necessaryto synthesize a proteins. In few wordsthe Proteins determines the body'sstructure and function, butt when thisinformation is altered the peopledevelop a diseases.

All diseases have a genetic component,whether inherited or resulting from thebody's response to environmentalstresses like viruses or toxins. Thesuccesses of the HGP have even enabledresearchers to pinpoint errors in genesthat cause or contribute to disease.

Is considered that the human genomeshould be equal from person toperson and should only vary in nucleicacid sequence, giving him thecapacity of polymorphism, but now ishas been found that this sequencecan very from person to person whenis making a analysis of genome-

widescale.

Scientists identified over a

thousand of structural variants

that disrupt the sequence of

one or more genes, those

structural tend to happen in

different places in the genome

and through different molecular

processes. The structural

variants found are deletions,

where genetic material is lost,

and insertions, where genetic

material is gained.

Bay knowing the exact

genetic sequence of

these variations, help

clinical geneticists cant

narrow down their

searches for disease-

causing mutations and

new possibilities of

treatment can by offer to

people why any kind of

disease

OBSERVATION

Bay knowing the molecular

etiology of the diseases, it will

be possible to approach to the

real cause of various diseases

and dad way we cant start

developing new molecular

treatments that provide an

efficient therapy for patients.

Proteins are the macromolecu

les that perform almost all

activities of the cell. They are

encode in the genes which

are also contain in the

chromosomes. Today the

project Human Proteome

Organization HUPO, is

working to identify the

proteins that the different

genes give rise to in the

human body.

Lund University in Sweden is the

responsible for coordinating the

mapping of all the proteins of

chromosome 19, because they are

interested in to identified proteins

associated with prostate cancer the

are controlled by chromosome 19.

There research is also conducted on

the possibility of detecting the

presence of prostate cancer, brain

or lung cancer, diabetes or

cardiovascular disease using

developments in microchip

technology.

Knowing the abnormally

levels of a certain protein in

the bodies of the patients it

will be possible to see how

this target protein is

associated with the

development of diseases

and search for a effective

method to stopped. This kind

of search cant live to the

designing new drugs and

methods that stop the

proteins in question.

OBSERVATION

The continued investigation of theproteins codification in genes isnecessary if we want to have abetter understanding on thehuman body, that way thedeveloping off new and effectivemedications to patients will be100%. Other benefit is the realknowledge of protein codificationin genes we ken star developingmethods of promotional andprevention treatment for thepatients.

Bay knowing the pinpointerrors in genes we cantdevelop new ways to treat,cure, or even prevent thethousands of diseases thatafflict humankind.

Medical Utility

Knowing the genetic variants itwill be possible to determinate ifthe genome mutates inherited orass the result from the body'sresponse to environmentalstresses like viruses or toxins, dadway we could prevent a largenumber of diseases baypromoting god help habits orreducing health exposure.

Medical Utility

Drug design is being

revolutionized as researchers

create new classes of medicines

based on a reasoned approach to

the use of information on gene

sequence and protein structure

function rather than the traditional

trial-and-error method.

Medical Utility

Bibliography

Genetic Sequence of Large-Scale Differences

Between Human Genomes ScienceDaily (Feb. 2,

2011).

Mapping Proteins on Chromosome 19

ScienceDaily (Feb. 3, 2011).

Martínez Sanchez, LM. Biología Molecular. 6 ed.

Medellín: UPB. Fac de Medicina 2011. 292p.

THANKS