“RESEARCHERS DISCOVER DNA ‘REPAIR’ ENZYME THAT COULD ENHANCE CANCER TREATMENTS”

AND “NEW MECHANISM FOR HUMAN GENE

EXPRESSION DISCOVERED”

Juan Sebastián Parada ZuluagaMedicine student

III semester

Molecular Biology

INTRODUCTION

The news are about replication of

genetic information, an important

molecule involved in this process and it

relation with cancer; discoveries at

same process and it possible treatment

associated with neurodegenerative

diseases.

RESEARCHERS DISCOVER

DNA

‘REPAIR’ ENZYME

THAT COULD ENHANCE

CANCER TREATMENTS

RESEARCHERS DISCOVER DNA ‘REPAIR’ ENZYME THAT COULD ENHANCE CANCER TREATMENTS

NEIL1 is a protein associated

with the replication process.

It´s part of the pre-replication

complex protein group.

The pre-replication complex

can bind to the single strands

and copy them back into

double strands.

RESEARCHERS DISCOVER DNA ‘REPAIR’ ENZYME THAT COULD ENHANCE CANCER TREATMENTS

DNA replication is an unprotected

process, making it more

vulnerable to reactive molecules

that will damage the structure and

function.

If this occurs, the genetic

information will be altered,

producing different diseases

associated with specific mutation

on DNA.

ROS

RESEARCHERS DISCOVER DNA ‘REPAIR’ ENZYME THAT COULD ENHANCE CANCER TREATMENTS

The damages on DNA are

frecuently along the cell

division by reactive

molecules.

NEIL1 immediatly, recognize

the mutation and binds to the

damaged site, stoping all the

process.

When the replication stops,

the next step is the

regression of the replication

fork.

RESEARCHERS DISCOVER DNA ‘REPAIR’ ENZYME THAT COULD ENHANCE CANCER TREATMENTS

In cancer cells, cancer drugs may be more

effective if NEIL1 expression is blocked or

inihibited.

If the genome is damaged and if it´s not repaired,

the cell will be more susceptible to external agents

and die easily. So, if the DNA is repairable,

resistance to disease increases, and the activity

of DNA repair is who prevents efficiency against

cancer.

RESEARCHERS DISCOVER DNA ‘REPAIR’ ENZYME THAT COULD ENHANCE CANCER TREATMENTS

PERSONAL OBSERVATION

Identify cell process is of utmost importance for development of science and

biotechnology.

Knowing the different cellular processes, show us possibilities to interact with

genome for creation of favorable mechanisms to manage different pathologies

and oncology treatment, improving the global health.

NEW MECHANISM FOR HUMAN GENE

EXPRESSION DISCOVERED 

NEW MECHANISM FOR HUMAN GENE EXPRESSION DISCOVERED

• CACNA1A    is a gene  that  codifies  to 

calcium channel protein in nerve cells.

• In  spinocerebellar  ataxia  type-6 

(SCA6),  researchers  found  mutation 

of  this gene, but not difunctionality or 

alteration of the channel.

NEW MECHANISM FOR HUMAN GENE EXPRESSION DISCOVERED

Looking  for  other  reason, 

researchers    focused on α1ACT;  a 

free-floating  fragment  of  the 

CACNA1A  calcium  channel  protein 

known  to  express  extra  copies  of 

glutamine in SCA6 cells.

NEW MECHANISM FOR HUMAN GENE EXPRESSION DISCOVERED

α1ACT origin  is  the  same  mRNA 

sequence as  the CACNA1A  calcium 

channel. 

Mutated α1ACT appeared to be toxic 

to nerve,  finding  the explanation  this 

rare case.

NEW MECHANISM FOR HUMAN GENE EXPRESSION DISCOVERED

Now, the team are investigating 

other examples of human genes 

with the same characteristics to 

understand the new mechanism and 

develop treatments to combat the 

disease.

They are looking for achieve the 

inhibition of production of the mutant 

α1ACT in spinocerebellar ataxia 

type-6  to stop the progression of 

the disease.

NEW MECHANISM FOR HUMAN GENE EXPRESSION DISCOVERED

PERSONAL OBSERVATION

Its not just a mutated protein

identification: the knowledge of a

new kind of cellular process is a

great find, that could open the door

to researches for the advance and

knowledge about the genome.

Knowing those Altered process is a

principal part to looking for

treatments, or better the cure for

diseases. Now there´s a future

solution for SCA6.

UTILIDAD MÉDICA

UTILIDAD MÉDICA

Achieve a better understanding of cell replication process is

essential for the future of genetic research and therefore, for

medical progress in search of fighting diseases current.

BIBLIOGRAPHY

• Grush, Loren. Researchers discover DNA ‘repair’ enzyme that could enhance cancer treatments. FOX NEWS HEALTH; 2013 [cited 2013 July 30]; Available at : http://www.foxnews.com/health/2013/07/30/researchers-discover-dna-repair-enzyme-that-could-enhance-cancer-treatments/

• New Mechanism for Human Gene Expression Discovered. Science Daily; 2013 [cited 2013 July 3]; Available at: http://www.sciencedaily.com/releases/2013/07/130703120554.htm