This document discusses recent discoveries about how certain genes and proteins play roles in various biological processes and diseases. It summarizes two research papers that found: 1) Variants of a gene called AARS can impact brain cells, immune cells, p53 signaling, apoptosis, tumorigenesis and angiogenesis. 2) Poly-peptides encoded by the C9ORF72 gene bind to nucleoli, impair RNA biogenesis, and kill cells, providing insights into neurodegenerative diseases like Alzheimer's and ALS. The student believes these findings could lead to new treatment approaches targeting the underlying causes rather than just symptoms of diseases.

1. An Old Gene's New Tricks Prove Surprisingly Diverse
And
Poly-dipeptides encoded by the C9ORF72 repeats
bind nucleoli, impede RNA biogenesis, and kill cells
Ioka De la Peña Lozano
Medical student
2014

4. INTRODUCTION
Splicing is one of the
most important
process that the RNA
have, and its a
mechanism that allows
variation and
transformation of it.

5. An old gene`s new tricks prove
surprisingly diverse
(Jul 17, 2014)

6. new variants of AARS
work with
Brain cells
Inmune cells
P-53
signaling

7. apoptosis
Tumorgenesis
Angiogenesis
This means that
some of the most
difficult
problems, and
unknown
mechanisms in
medicine will be
able to be studied
deeply

8. Even when this proteins were already
discovered, the functions of them was
unclear, and now that the real capacity of
them its really known the use of the
characteristics they have will help to get
better the way of the patients are treated
for their diseases

9. STUDENT OPINION
I THINK…
This is a huge discovery it means that some of the unwanted
effects that a treatment could give to the person that is
already sick, it will disappear and can bring new
opportunities of getting better results to those who only use
the medication to stop a little part of the pain.

10. Poly-dipeptides encoded
by the C9ORF72 repeats
bind nucleoli, impede RNA
biogenesis, and kill cells
(July 31 2014 )
Alzheimer
Parkinson
Creutzfeldt-Jakob
esclerosis
múltiple
ELA

11. A neurodegenerative disease is a group of
affections that cause cell death and it makes
the person that suffers of it lose some of the
basic functions and it will need the help of
others to have sort of a life quality

13. The fact that we already know how
is the way that cell death is
controled and also know how the
genetic factors like maduration of
rna, and some mutations in this
process afect the corret working
mechanism of the cell the
investigations could be oriented to
treat and prevent what we find out
that make the damage

14. I THINK…
STUDENT OPINION
The neurodegenerative diseases are a current
problem, affect more people that what we
dimension and the meaning of the discovery
of the way that they really work, is huge
because it will let the scientist innovate in
treatments based on the real cause of the
disease and not just contain the illness and
the symptoms

15. MEDICAL UTILITY

16. MEDICAL UTILITY

17. MEDICAL UTILITY

18. MEDICAL UTILITY
Better
treatments
Decreased in
the prevalence
of the disease
Diminution of
the adverse
effects

19. REFERENCES
• http://www.sciencemag.org/content/early/2
014/07/30/science.1254917
• http://www.genengnews.com/gen-news-
highlights/an-old-gene-39-s-new-tricks-
prove
• Lina María Martinez; biologia molecular 7
edicion ;upb 2012
• http://www.alzforum.org/news/research-
news/c9orf72-killer-dipeptides-clog-
nucleolus