GRAND STUDENT HEARS CALLING TO SHARE SCIENCE WITH YOUTHS

AND ANTISENSE THERAPY FOR

SPINAL MUSCULAR ATROPHY SHOWS

PROMISEGLORIA STHEFANY TORRES

DAZAMEDICAL STUDENT

3° SEMESTER

INTRODUCTION

The splicing is a modification of an RNA after transcription, in which introns are removed and exons are joined.

The following news explains this important process, and gives a medical application.

GRAD STUDENT HEARS CALLING TO SHARE SCIENCE WITH YOUTHS

SCIENCE DAILY (AUGUST 13, 2010)

FIRST NEWS

Tuttle is a teacher in USA.

She spent 10 weeks that

summer studying the

dynamics of the hepatitis D

virus ribozyme, a virus that

promotes development of

the disease. More recently,

she has been working on a

project aimed at

determining which metal

atoms in the spliceosome

are responsible for driving

the chemistry of RNA

molecules.

“The splicesome is a critical piece of machinery in the cells,” Tuttle

explained. After DNA is transcribed into RNA, the spliceosome cuts that

RNA at precise positions and re-stitches it back together in a new way. The transcripts need to be precisely

spliced “because if you mess that up, you’re not going to be producing the

correct gene products. And sure enough, splicing defects have been implicated in a number of human

diseases.”

As an elementary school student, Tuttle thought science was all about

answering multiple-choice questions from a textbook, not working with the yeast colonies, RNA molecules

and X-ray films of her daily routine. A middle-school

chemistry class changed all that. Now she feels drawn toward both research and

science education.

“I really loved teaching. It was fantastic to bring science to the new generation,” she said. For now, “I just want to do good science here and see where it takes me.”

STUDENT OBSERVATION: 1° NEWS

The spliceosome is a topic very interesting for the scinece and the

students too. And the most important is the example thah Tuttle give us,

because, she teach us to study with dedication the topics about the

science and looking for the utility to the humanity.

ANTISENSE THERAPY FOR SPINAL MUSCULAR ATROPHY SHOWS PROMISE

SCIENCE DAILY (JULY 12, 2010)  

SECOND NEWS

Scientists at Cold Spring

Harbor Laboratory and

California-based Isis

Pharmaceuticals have

succeeded in reversing

symptoms of Type III SMA, a

relatively mild form of the

disease, in mice by introducing

an ASO into their spinal cords.

The ASO fixes the molecular

mistake underlying SMA by

redirecting a cellular editing

process called alternative

splicing.

SMA is caused by insufficient le

vels of a

protein called Survival of Motor N

euron

(SMN) in th

e spinal cord's m

otor neurons,

which waste away along with th

e muscles

that they can no longer contro

l. The SMN1

gene, which produces th

e SMN protein, is

missing or m

utated beyond repair in

SMA

patients. Humans h

ave a second SMN-

producing gene called SMN2, but this g

ene

is a poor b

ackup, as it produces v

ery little

functional SMN protein. This deficiency

stems fr

om a mistake th

at occurs durin

g

splicing, a molecular editin

g process that

kicks in afte

r the gene's D

NA has been

copied into RNA.

This treatment prevented both tail and ear necrosis in the neonates and embryos, which developed into adults with normal tails and ears. The researchers suggest

that supplying the therapeutic ASO to the

animals' central nervous system, which restored

cellular SMN protein levels, might in turn prevent

neuronal deterioration, muscle wasting, and

vascular problems in the tail and ears.

The collaborators have now overcome this limitation by directly delivering ASOs into the animals' central nervous system, a common route of administration for other drugs such as chemotherapy agents. Infusing ASOs into the fluid

that surrounds the brain and spinal cord resulted in a robust increase in the levels of SMN protein in individual motor neurons throughout the spinal cord of type III SMA

mice.

In 2008, the team injected

these ASO molecules into the

bloodstream of mice

engineered to carry a human

SMN2 gene that display

symptoms of type III SMA. This

regimen corrected SMN2

splicing in the animals' liver

and kidneys but not in spinal

cord neurons -- where they are

most needed -- because the

ASOs failed to breach the

blood-brain barrier and enter

the spinal cord.

STUDENT OBSERVATION 2° NEWS

In this news the sciencetists team shows the way to save the patient with SMA,

through the alternative splicing. It is a very important investigation, because the

molecular biology is the basic of many process with medical utility, besides this

procces helps to the medical advances and the global health too.

MEDICAL UTILITY

Investigations about splicing

procces

Aplication of alternative

splicing

Best live quality to the people

A mistake that occurs during splicing can be produced different

diseases in the people.

Using alternative splicing reporters the sciencetist and

doctors have previously observed mesenchymal epithelial

transitions in rat prostate tumors.

The splicing can contribute to the etiology of cancer and serve as a marker to establish the diagnosis

of cancer

The human genome sequencing project suggests approximately 20,000-25,000 genes. Among these, about 35-60% of genes generate multiple mRNAs by

alternative splicing mechanism and contribute to the diversity of the proteomic world. This ‘gene

shortfall’ has ignited considerable interest in alternative RNA splicing

Tow major goal of regenerative medice are the transformation of adult somatics cells and to control

their differentiation, Tihs goal wold be helped by obtaining a

RNA isoforms , during the alternative splicing.

I THINK THAT THE SPLICING IS A VERY IMPORTANT PROCESS IN THE MOLECULAR BIOLOGY AND MEDICAL INVESTIGATIONS

BECAUSE IT IS THE FUNDAMENTAL BASE TO CURE STRANGERS DISEASES AND IT GIVES DIFFERENT

POSSIBILITIES OF ITS TREATMENT AND DIAGNOSTIC.

BIBLIOGRAPHY Grand Student Hears Calling Share Science with Younts.

The University of Chicago News Office.

URL: http://www.newswise.com/articles/grad-student-hears-calling-to-share-science-with-youths

Antisense Therapy for Spinal Muscular Antrophy Shows Promise. Science Daily. URL: http://www.sciencedaily.com/releases/2010/07/100712103501.htm

MARTINES, S. Lina María. Biología Molecular. Quinta edición. Medellín 2009. P 142, 195.

REVIEW ARTICLE. URL: http://www.bioline.org.br/pdf?hg06009

SPRINGERLINK. URL: http://www.springerlink.com/content/551x720542804742/