Researchers have discovered two new mechanisms related to DNA replication and gene expression. First, they found an enzyme called NEIL1 that repairs damaged DNA and could enhance cancer treatments if inhibited in cancer cells. Second, they uncovered a new mechanism where a fragment of the CACNA1A gene causes spinocerebellar ataxia type-6 by producing toxic proteins, offering potential treatment by inhibiting production of the mutant fragment. The discoveries provide insights into cellular processes that could be targeted to develop new disease treatments.

1. “RESEARCHERS DISCOVER DNA ‘REPAIR’ ENZYME
THAT COULD ENHANCE CANCER TREATMENTS”
AND
“NEW MECHANISM FOR HUMAN GENE
EXPRESSION DISCOVERED”
Juan Sebastián Parada Zuluaga
Medicine student
III semester
Molecular Biology

4. 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.

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

6. 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.

7. 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

8. 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.

9. 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.

10. 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.

11. NEW MECHANISM FOR HUMAN GENE
EXPRESSION DISCOVERED

12. 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.

13. 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.

14. 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.

15. 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.

16. 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.

17. UTILIDAD MÉDICA

18. 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.

19. 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