Plegable "Monogenic Disorders" Manuela Patiño Marin

1. MONOGENIC
DISORDERS
Manuela Patiño Marín
Medicine Student
Universidad Pontificia Bolivariana
3rd Semester

2. MEDIC AL
U T I L I T Y
MONOGENIC
DISORDERS
Manuela Patiño
Marín
Molecular Biology
UPB
2017-02
BI BLI OGRAPHY
•Davina J Hensman Moss et al.
University College London.
"Genetic modifier for
Huntington's disease
progression identified."
ScienceDaily. ScienceDaily, 20
June 2017. from
www.sciencedaily.com/releases/
• American Chemical Society.
"Bacteria from cystic fibrosis
patient could help thwart
antibiotic-resistant TB."
ScienceDaily. ScienceDaily, 14
June 2017. From;
<www.sciencedaily.com/releases
/2017/06/170614112916.htm>.2
017/01/170110121046.htm
• Martinez Sanchez, Lina
Maria. Biología Molecular.
8 ed. Medellín: UPB.
Monogenic diseases are
those caused by alterations in
a single gene. They are
transmitted according to
Mendelian laws and
although they affect 1-2% of
the population, they
represent a public health
problem that must be
addressed. In the news, they
show us how medicine is
advancing to try to manage
hereditary diseases, such as
Huntington, and how these
diseases could
help us
manage others,
such as cystic
fibrosis for
TB management..

3. GENETIC MODIFIER
FOR HUNTINGTON'S
DISEASE
PROGRESSION
IDENTIFIED
A team led by UCL and Cardiff
University researchers has
developed a novel measure of
disease progression for
Huntington's disease, which
enabled them to identify a genetic
modifier associated with how
rapidly the disease progresses.
PERSONAL OPINION
It’s a great advantage to
know the progression of
a disease, as this helps to
créate an effective
treatment and improve the
quality of life of
thousands of people who
suffer from in besides
preventing the onset of it.
BACTERIA FROM
CYSTIC FIBROSIS
PATIENT COULD
HELP THWART
ANTIBIOTIC-
RESISTANT TB
The number of drug-resistant
tuberculosis (TB) cases is rising
globally. But a newly discovered
natural antibiotic -- produced by
bacteria from the lung infection
in a cystic fibrosis patient --
could help fight these infections.
Lab testing reported in the
Journal of the American
Chemical Society shows that the
compound is active against
multi-drug resistant strains.
PERSONAL OPINION
It´s a breakthrough that
medicine can takes
something bad like cystic
fibrosis and use it in favor
Of humans doing drugs that
avoid bacterial resistance and
serve as treatments to multiples bacteria
I N T R O D U C T I O N
Monogenic hereditary diseases
are those caused by alterations in
the DNA sequence of a single
gene. These diseases follow the
rules of Mendel so they have
different inheritance patterns:
Autosomica dominant,
Autosomica recessive, Linked to
dominant sex and linked to
recessive sex. At present, genes
from many monogenic disorders
have been isolated; for example
Huntington's disease, Cystic
fibrosis, Muscular Dystrophies,
Hemophilia, Marfan syndrome,
among others.

4. I NTRODUCTI ON
HUNTINGTON CYSTIC FIBROSIS
Autosomal dominant and
progressive degenerative
CNS disorder.
Gen: IT15
Protein product:
Huntingtin.
Deadly autosomal recessive
disorder. There is an
accumulation of viscous
mucus that accumlates in
the distal airways, intestine,
uterus…
Gen: CFTR
.
I N T R O D U C T I O N
Monogenic hereditary diseases
are those caused by alterations in
the DNA sequence of a single
gene. These diseases follow the
rules of Mendel so they have
different inheritance patterns:
Autosomica dominant,
Autosomica recessive, Linked to
dominant sex and linked to
recessive sex. At present, genes
from many monogenic disorders
have been isolated; for example
Huntington's disease, Cystic
fibrosis, Muscular Dystrophies,
Hemophilia, Marfan syndrome,
among others.

5. GENETIC MODIFIER FOR
HUNTINGTON'S DISEASE
PROGRESSION IDENTIFIED
2017, June 20
University College London

6. Huntington disease (HD) is a fatal neurological disease caused by a
rapidly evolving genetic mutation.
"We've identified a gene that could be a target for treating Huntington's disease.
While there's currently no cure for the disease, we're hopeful that our
finding could be a step towards life-extending treatments”
GENETIC MODIFIER FOR HUNTINGTON'S
DISEASE PROGRESSION IDENTIFIED

7. They studied
high-quality
phenotypic data
that could be
observed in
people with
Huntington's
disease, in
addition, they
searched for
areas of the
genome that were
associated with
the measurement
of disease
progression.
GENETIC MODIFIER FOR
HUNTINGTON'S DISEASE
PROGRESSION IDENTIFIED
And found a
significant result
in their sample of
216 people who
then validated in
a larger sample of
1.773 people from
a separate cohort.

8. The researches identified that a variation in MSH3
encodes an amino acid chande in the gene. MSH3 has
been widely involven in Huntington pathogenesis.
“The strength of our finding implies that the variant we
identify has a very large effect on Huntington, or that the
new measure of progression we develop is a much better
measure” Said Professor Lesley Jone
GENETI C MODI FI ER FOR HUNTI NGTON'S
DI SEASE PROGRESSI ON I DENTI FI ED

9. This study seems to be a
useful tool to try to manage
diseases as complex as
Huntington. Also, i´m very
happy to know that people who
suffer from this disease will
have greater possibilities of
treatment, which will improve
greatly the quality of life and
i think we can reach a point
where we delay both the
appearance of the illness that
people who suffer from it will
have a longe life expectancy.
PERSONAL OPINION

10. BACTERIA FROM CYSTIC FIBROSIS
PATIENT COULD HELP THWART
ANTIBIOTIC-RESISTANT TB
2017,June 14.
American Chemical Society

11. BACTERIA FROM CYSTIC FIBROSIS PATIENT
COULD HELP THWART ANTIBIOTIC-
RESISTANT TB
Since the first disovery of mold penicillin, scientists have continued to
look for natural sources of antibiotics. And as pathogens
develop resistance to previously trustworthy drugs, the search
has acquired a new urgency.

12. BACTERIA FROM CYSTIC
FIBROSIS PATIENT COULD
HELP THWART ANTIBIOTIC -
RESISTANT TB
The researches found
that a species,
Burkholderia
gladioli, which was
isolated from the
sputum of a child
with Cystic Fibrosis,
produces an
antibiotic called
GLADIOLINA.
The compound
belongs to the same
structural class as
ethnagien, another
antibiotic that has
been investigated for
its ability to clog
bacterial cell machine.

13. BACTERIA FROM CYSTIC FIBROSIS PATIENT
COULD HELP THWART ANTIBIOTIC-
RESISTANT TB
The researchers found that GLADIOLIN is
more stable tan Ethnangien, and could
potentially be a better drug candidate.
Laboratoy tests also showed that
GLADIOLIN blocked the growth of four
drug-resistant strains.

14. It seems to me a great
advantage that a disease is used
as a tool to create treatments
that will help thousands of
people in the world, besides, it
seems very useful that they are
in search of new medicines
because at present thank to the
high consumption of antibiotic
indiscriminately, the bacteria
have mutated and become
multiresistant.
PERSONAL OPINION

15. M E D I C A L U T I L I T Y

16. M E D I C A L U T I L I T Y
Monogenic disorders are
problems that often afflict the
Community. It´s very important
to know them and to know what
their inheritance pattern is, so
that we can help to prevent their
appearance, in addition to having
a more adequate control of their
management. I think it would be
very useful if each family is
genetically advised to know what
risks they have.

17. M E D I C A L U T I L I T Y
One of the greatest advantages of
research in this field is that each day
discover more and
more genes and
sequences that have
to do with the
development of
monogenic diseases which helps
their prevention and créate
treatments so specific that don´t
cause other problems because attack
the mutation specifically.

18. M E D I C A L U T I L I T Y
Finally, i find it very interesting
and importan that they are creating
new medicines from diseases that
helps to counteract bacterial
resistance. It is an opportunity for
proper management of many
bacterial diseases such as TB and
that the treatment is truly effective.
Medicine is growing by leaps and
bounds.

19. BI BL I O G R A P H Y
•
•
•
Davina J Hensman Moss et al. University College London.
"Genetic modifier for Huntington's disease progression
identified." ScienceDaily. ScienceDaily, 20 June 2017.
from www.sciencedaily.com/releases/
American Chemical Society. "Bacteria from cystic fibrosis
patient could help thwart antibiotic-resistant TB."
ScienceDaily. ScienceDaily, 14 June 2017. From;
<www.sciencedaily.com/releases/2017/06/170614112916.h
tm>.2017/01/170110121046.htm
Martinez Sanchez, Lina Maria. Biología Molecular. 8 ed.
Medellín: UPB

20. ‘’Boredom is what is left of
the thoughts when the
PASSIONS are removed
from them”
A l a i n