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1. Biology, medicine
tool.
Ana Sofía Cortés Porras
Medicine Student.

2. MEDICAL UTILITY.
Biology,
medicine tool.
By: Ana Sofía Cortés
Molecular Biology
Teacher: Lina María
Martínez Sánchez.
BIBLIOGRAPHY.
 Martínez Sánchez, Lina María. Biolo-
gía Molecular. 7 ed. Medellín: UPB.
Facultad de Medicina.
 Case Western Reserve University.
"Single protein controls genetic net-
work essential for sperm develop-
ment." ScienceDaily. ScienceDaily, 10
July 2017. from
<www.sciencedaily.com/
relea-
ses/2017/07/170710171953.htm>.
- Children's Hospital of Philadelphia.
"Mitochondrial disease has a dispropor-
tionate healthcare burden in US: CHOP
study highlights high costs of these di-
sorders, points to urgent need for bet-
ter therapies." ScienceDaily. Science-
Daily, 28 June 2017. from
<www.sciencedaily.com/
relea-
ses/2017/06/170628131414.htm>
Is important to recognize the
work that biology has done in
the study of cellular
metabolism, in this case the
mitochondria and the role of
proteins in cell división.
Has been of great help to
study the diseases from the
beginning, to know the basic
damage, and with this, also
know how to prevent it and
how to treat it when it is
present

3. INTRODUCTION.
The proteins are macromolecules
that execute the activities of the
cell, and watch that all
this normal. Any damage to the
synthesis or functioning of any
component generates an illness.
The proteins are mediators, they
perform certain
functions that are
already determined
in the DNA.
Single protein controls genetic
network essential for sperm
development
WHAT DID THEY DO?
The researchers removed the gene
encoding Ptbp2 in germ cells, then
looked at the RNA functions in four
sperm development
What did they find ?
Found that without the protein Ptbp2
the development of sperm is not ge-
nerated correctly.
OPINION STUDENT
These advances are very impor-
tant because they become a very
useful tool in
the
diagnosis.
Mitochondrial disease has a
disproportionate healthcare
burden in US
What did they find ?
A study team, through a database
and research in hospitals, show how
over time mitochondrial diseases
are becoming more frequent, gene-
rating thousands of deaths each
year and being one of the largest
expenses for health entities.
OPINION STUDENT
It is important that these data
be known because
improvements and changes can
be made for the future

4. INTRODUCTION.
The proteins are macromolecules
that execute the activities of the
cell, and watch that all be normal.
Any damage to the synthesis or
functioning of any component ge-
nerates an illness.
The proteins are mediators, they
perform certain fun-
ctions that are
already determined in
the DNA
Are synthesized from an mRNA
template
Are synthesized in the ribosome, in
both eukaryotic and prokaryotic cells.
The ribosomes are made up of pro-
teins and rRNA
Each protein has some amino acids
that gives it its properties.

5. Single protein controls ge-
netic network essential for
sperm development
WHAT DID THEY DO?
The researchers removed the
gene encoding Ptbp2 in germ ce-
lls, then looked at the RNA fun-
ctions in four sperm develop-
ment
What did they find ?
Found that without the protein
Ptbp2 the development of sperm
is not generated correctly.
The splicing for germ cell production is much higher
than in other cells, Alternative splicing sites are
responsible for the complexity of humans

6. .
The team looks for an explanation of
how splicing is controlled at the
development stage.
His work was centered on the protein Ptbp2.
One of the researchers said: "Understanding
the splicing of RNA in germ cells could help re-
searchers better understand the mechanisms
behind developmental defects in humans"

7. How did they do this
1. The researchers removed the gene
encoding Ptbp2 in germ cells
2. Studied the levels and functions
of alternatively spliced RNAs in four
different stages of sperm
development.

8. ¿ What did they find ?
Without the Protein Ptbp2, the alternative
splicing for more than 200 genes within the
developing sperm went wrong.
Also germ cells could not move, carry materials or
communicate with other cells.
Also affected the Sertoli cells.
Had defects in their cytoskeleton, which they
used to physically move and interact with germ
cells.

9. Student’s opinion
I think that these investigations give
a huge advance to the field of
medicine, because knowing the most
basic damage that generate a
syndrome it can be prevented and
sought to cure more effectively.

10. Mitochondrial disease has a
disproportionate healthcare
burden in US
What did they find ?
A study team, through a
database and research in
hospitals, show how over time
mitochondrial diseases are
becoming more frequent,
generating thousands of deaths
each year and being one of the
largest
expenses
for health
entities.
Mitochondrial diseases are a group of disorders
caused by mutated genes that alter energy
production in a patient's cells, often causing
severe
effects.

11. Mitochondria is the body's energy factory.
Carry their own DNA, so mutations in the
functioning of the mitochondria reduce the
production of cellular energy in the
respiratory chain.
In the past, years ago, these muta-
tions were very rare, large number
of children with these disorders are
appearing

12. What is happening ...
Patients with these diseases who are
hospitalized, have higher costs than other
diseases
Researchers talk about the importance of
developing preventive strategies and
therapies for these diseases

13. What the researchers say
There has been little research
on what generates mitochon-
drial disease in public health
The mortality rate for these pa-
tients is six times higher than
deaths from other diseases
Every 30 minutes a child who will
develop mitochondrial disease at
age 10 is born.

14. Student’s opinion
I
I think it’s worrying that every time
these rare diseases continue to
increase and cause so many deaths,
research should focus on these
types of problems, and make a big
step in medicine

15. It’s important to recognize the
work that biology has done in the
study of cellular metabolism, in
this case in the mitochondria and
the role of proteins in cell divi-
sion
Has been of great help to study
the diseases from the beginning,
to know the basic damage and
with this to know how to prevent
it and how to treat it when it is
present
MEDICAL UTILITY. MEDICAL UTILITY

16. Single protein controls genetic network es-
sential for sperm development
When it is known all the
functioning of the different cells
and the mechanisms that
p e r f o r m f o r a g o o d
functioning, it is easier to know
the mistake that produces a disor-
der or illness, and the treat-
ment and mechanisms to
prevent damage is more
effective and reliable

17. Mitochondrial disease has a disproportionate healthcare burden in US
It is important that exist
studies that show the in-
crease of disorders such as
the damage of the mito-
chondrial functioning, becau-
se it opens the eyes to the
medical personnel of the
speed with which they are
increasing mainly in children,
and the way to find the solu-
tion to stop it.

18. Finally any discovery opens
the door to medicine to
continue helping all patients
who present any disorder,
diseases will continue to
progress and new diseases
will appear, and for this new
drugs, new procedures and
new knowledge will have to
come to the light

19. BIBLIOGRAPHY.
 Martínez Sánchez, Lina María. Biología Molecular. 7 ed. Medellín: UPB. Facultad de Medicina
 Case Western Reserve University. "Single protein controls genetic network essential for sperm development."
ScienceDaily. ScienceDaily, 10 July 2017. from <www.sciencedaily.com/
releases/2017/07/170710171953.htm>.
- Children's Hospital of Philadelphia. "Mitochondrial disease has a disproportionate healthcare burden in US:
CHOP study highlights high costs of these disorders, points to urgent need for better therapies." ScienceDaily.
ScienceDaily, 28 June 2017. from
<www.sciencedaily.com/
releases/2017/06/170628131414.htm>

20. ¡ THANKS !