Plegable Biología Molecular 2017 - 1

1. Monogenic Diseases
Andrea Jaramillo Cerezo
Medicine Student
2017 - 1

4. Introduction
Positional cloning in action
is a laboratory technique
that allows us to localize
the position of a gene in a
chromosome that is directly
associated with a disease.
We can use it even when
we dont know the chemical
bases of the disease
The gene isolation is useful for:
- Identify the carriers
of the disease
- Detect the mutations
for an accurate diagnostic
- Develop some gene
therapy or recombinant
proteins for treatment
- Understand the
biochemestry and
pathology process

5. Cracking the code of
Huntington's disease
2017, March 23
Ecole Polytechnique Fédérale de Lausanne

6. People with
Huntington’s disease
(More than 36 Glutamine)
Cracking the code of Huntington's disease
Huntingtin
Is a protein transcribed from the gene
IT15 or Huntingtin gene. It’s function
hasn’t been enlightened, but we
know is essential for brain
development and protecting against
apoptosis
Normal people
(6 to 35 Glutamine)
Autosomal Dominant
Irritability
Personality
changes
Involuntary
movements

7. Cracking the code of Huntington's disease
The other amino acid
mimic the charge of the
phosphate group,
demonstrating they don’t
need to know all the
specific process
This is reduced in HD.
They want to use these modifications as disease
biomarkers for early diagnosis and
monitoring disease progression

8. Cracking the code of Huntington's disease
Post translational modification
Is an enzymatic process that modify
the protein after it’s biosynthesis. It
consist in adition new groups or
modifying one existing group
This is usful for the cell to build up
the final structural level and is the
last step of the protein
biosynthesis

9. Cracking the code of Huntington's disease
Student’s observation
I thinkthis is an excelent development because
this strategyis focus not onlyin reduce the symtoms
of the Huntingtin’s aggregation.
It’s importantthat this studycan help also to identify
biomarkers because if we can start the tretment options
before the apparition of severe signs we can expect a
better prognosis for the patients.

10. Vitamins could help treat
cystic fibrosis
2017, March 27
Queen's University Belfast

11. Vitamins could help treat cystic fibrosis
Cystic fibrosisAutosomal recessive disorder
Mutation in BOTH copies of the gene that codifies
CFTR protein (Cystic Fibrosis Transmembrane
Conductance Regulator) implicated in chloride
ion channel function
The secretions (principallyin lungs) become thick
affectingthe mucociliaryclearance
High percentage of INFECTIONS (main complication in CF)

12. Vitamins could help treat cystic fibrosis
As the CF patients are receiving a lot of
antibiotics for their frecuently lung
infections, each time they are infected by
more resistant bacteria that can live in
that hostile environment.
The principal
multiresistant bacteria
that affects CF patients
is called Burkholderia
cenocepacia, and
associated with an
exacerbation of
respiratoyry
symptomps,
deterioration of lung
function and death

13. Vitamins could help treat cystic fibrosis
Without fat-soluble vitamins
Lipocalin Antibiotic
Bacteria still growing
Lipocalin Antibiotic Lipocalin
Antibiotic
can attack
the bacteria
With fat-soluble vitamins

14. Vitamins could help treat cystic fibrosis
I thinkthis is a huge advance to
counteract the bacteria
resistance that can be aplied, in a
future, for not onlyinfections in cystic
fibrosis. Also this is so great for CF
patient because theyhave to live with
the risk of getting an infection in every
place that can kill them.
Student’s observation

15. Medical Utility

16. The use of fat-soluble vitamins couldbe
used by the medical community as an
alternative to potentiate the
effect of some antibiotics instead of
change them, because we already have
a big problem with antibiotic
resistance in this type of patients that
in some time aren’t going to be able to
receive antibiotics.
Medical Utility

17. With the Huntington’s
diseaseinvestigation they can
show to other investigation
groups how changing the
structure of some
proteins that cause some
diseases, can be helpfulto
reduce these proteins
potential of causing
some damages without
knowing the complete proces
of that protein synthesis.
Medical Utility

18. It’s very importantfor
the actual medicine to
investigate in this types of
pathologies becausein
this momentthey don’t
have a cure and they
can only be prevented by
some processes that
aren’t common as genetic
counseling or genetic
therapy.
Medical Utility

19. Bibliography
Ø Ecole Polytechnique Fédérale de Lausanne.
(2017, March 23). Cracking the code of
Huntington's disease. ScienceDaily.
Retrieved March 29, 2017 from
www.sciencedaily.com/releases/2017/03/1
70323125502.htm
Ø Queen's University Belfast. (2017, March
27). Vitamins could help treat cystic fibrosis,
research finds. ScienceDaily. Retrieved
March 28, 2017 from
www.sciencedaily.com/releases/2017/03/1
70327100742.htm
Ø MARTINEZ SÁNCHEZ, Lina María. Biología
molecular. 2. ed. Medellín: UPB. Fac. de
Medicina, 2006. 215-220 p.

20. “It is not our differences
that divide us. It is our
inability to recognize, accept,
and celebrate those
differences”
-Audre Lorde