POLYGENIC DISORDERS

Plegable Biología molecular

1. POLYGENIC
DISORDERS

Salomé Rivera
Medicine student

2. Salome Rivera
Medicine Student
POLYGENIC
DISORDERS
BIBLIOGRAPHY
Medical University of Vienna. "Alzheimer's disease:
On the hunt for the biomarker signal for early
detection." ScienceDaily. ScienceDaily, 27 March
2017. From
www.sciencedaily.com/releases/2017/03/17032708
3239.htm

University of Manchester. "New role for immune
cells in preventing diabetes and hypertension."
ScienceDaily. ScienceDaily, 17 March 2017. From
www.sciencedaily.com/releases/2017/03/17031708
2510.htm

Martínez Sánchez, Lina Maria. Biología Molecular.
7 ed. Medellín: UPB. Fac.Medicina

MEDICAL
UTILITY
As main point, the fact of carrying
out studies on the genetic variants
responsible for the different
polygenic disorders allows
approaching a possible solution
that, unlike a treatment, gives way
to a preventive medicine.

Both studies give hope to the
patient and the medical staff, as it
is a clear example of progress.

3. INTRODUCTION
It´s a genetic disorder caused
by the action of more than one
gene, that is, the simultaneous
presence of several genes.
Likewise, they are going to be
influenced by the differents
environmental factors.


Are disorders that present a
high difficulty level of study
due to genetic variability of
each disease; for the same
reason, all of the methods used
for prevent genital
malformation have a difficult
application when we talk the
complex diseases and
polygenic.
ALZHEIMER´S
DISEASE AND OR
EARLY DETECTION
IMMUNE CELL FOR
THE DIABETES AND
HYPERTENSION

Alzheimer's
disease is
progressive
degenerative
diseases of the
brain,
What did they say?
There is a specific biomarker that
hasn't been found it. For this reason
the patient only start treatment once
the disease is clinically manifest
what is the objective?
Being able to diagnose the disease
long before having the clinical
manifestations and thus to avoid the
risk to develop it
Student’s opinion
Identifying the genes involved in the
development of this disease allows
patients to avoid the development of
each of them thanks to the
opportunity to find a cure.
Eosinophils are a variety of white blood
cells and one of the immune
system components responsible for
combating multicellular parasites and
certain infections in vertebrates
Student’s opinion
I consider that the
knowledge of the
functioning of some
cells as an effective
treatment for
diseases that are
difficult to prevent
gives the patients a
better quality of life.
what did they find?
They found that eosinophil levels were
severely decreased in PVATs in obese
individuals, so that the same tissue
function was affected, contributing to
type 2 diabetes and hypertension.
what is the objective?
PVAT from fat that lack eosinophils
could quickly be rescued by addition of
eosinophils,

4. Introduction
INTRODUCTION
It´s a genetic disorder caused
by the action of more than one
gene, that is, the simultaneous
presence of several genes.
Likewise, they are going to be
influenced by the differents
environmental factors.


Are disorders that present a
high difficulty level of study
due to genetic variability of
each disease; for the same
reason, all of the methods used
for prevent genital
malformation have a difficult
application when we talk the
complex diseases and
polygenic.
Are characterized by non-
Mendelian inheritance
The methods of the pairs affected in some
family members are used for detect the
genetic linkage by the interaction of
multiple genes, as long as the origin of the
chromosomes affected are identified

5. Alzheimer's disease: On the hunt for the
biomarker signal for early detection

2017, March 27
ALZHEIMER´S
DISEASE AND OR
EARLY DETECTION

Alzheimer's
disease is
progressive
degenerative
diseases of the
brain,
What did they say?
There is a specific biomarker that
hasn't been found it. For this reason
the patient only start treatment once
the disease is clinically manifest
what is the objective?
Being able to diagnose the disease
long before having the clinical
manifestations and thus to avoid the
risk to develop it
Student’s opinion
Identifying the genes involved in the
development of this disease allows
patients to avoid the development of
each of them thanks to the
opportunity to find a cure.

6. Alzheimer's disease: On the hunt for the biomarker signal for
early detection

Alzheimer's disease are
progressive degenerative of
the brain, which start up to
30 years before the onset of
symptoms
The disease is already lying
dormant in people who
appear completely healthy
from a clinical point of
view.
With the correct
measures, it is possible to
delay the clinical
symptoms of Alzheimer's
disease or to alleviate the
initial symptoms such as
forgetfulness

7. Alzheimer's disease: On the hunt for the biomarker signal for
early detection

Biomarkers are biological
characteristics in the body
that can indicate the
presence of a disease.
which can be used as a
reference point for
medical treatment
There are particular biological
signals for Alzheimer's in the
liquor
Tau proteins
play an important role
in material transport
within neurons

8. Alzheimer's disease: On the hunt for the biomarker signal for
early detection

In order to help Alzheimer's sufferers, the
EU project entitled "Memento," which is
being run by MedUni Vienna together
with the AIT (Austrian Institute of
Technology) and other international
partners, is concerned with developing
so-called electronic devices to help
sufferers in their everyday lives
GPS can be used to give verbal directions for finding
the way to the shops or back home again and there
are also similar devices for tracking people.

9. Student’s
opinion
I believe it is important to continue the
search for those specific biomarkers that
provide an approach to the possibility of
avoiding the development of Alzheimer's
and thus to help each patient with a
genetic predisposition

10. New role for immune cells in preventing
diabetes and hypertension


2017, March 17
IMMUNE CELL FOR
THE DIABETES AND
HYPERTENSION
Student’s opinion
I consider that the
knowledge of the
functioning of some
cells as an effective
treatment for
diseases that are
difficult to prevent
gives the patients a
better quality of life.
what did they find?
They found that eosinophil levels were
severely decreased in PVATs in obese
individuals, so that the same tissue
function was affected, contributing to
type 2 diabetes and hypertension.
what is the objective?
PVAT from fat that lack eosinophils
could quickly be rescued by addition of
eosinophils,
Eosinophils are a variety of white blood
cells and one of the immune
system components responsible for
combating multicellular parasites and
certain infections in vertebrates

11. New role for immune cells in preventing diabetes and
hypertension

Dr Sheena Cruickshank said: "This
type of immune cell is present in
many parts of the body and was once
thought to just act in parasitic
infections and allergies, but it's fast
becoming clear that they have a
significant effect on lots of aspects of
health and immunity."

12. New role for immune cells in preventing diabetes and
hypertension


Eosinophils are present in a layer of fat
tissue called the perivascular adipose
tissue (PVAT), which surrounds blood
vessels and helps to maintain normal
blood vessel function by reducing
artery contraction
It influenced the
release of nitric oxide
and a protein called
adiponectin, which
control healthy PVAT
function

13. New role for immune cells in preventing diabetes and
hypertension


These immune cells have been
traditionally overlooked but this study
shows for the first time that they have a
direct role to play in processes in the body
beyond the immune system.

14. Student’s
opinion
With this study we can observe the infinity of
knowledge that we still do not know about
many of the cells of our body, the infinity of
functions that each of them can have. Also the
fact of treating a disease with the same cells of
the body offers the possibility of treating these
diseases in a different way

15. Medical utility
MEDICAL
UTILITY
As main point, the fact of carrying
out studies on the genetic variants
responsible for the different
polygenic disorders allows
approaching a possible solution
that, unlike a treatment, gives way
to a preventive medicine.

Both studies give hope to the
patient and the medical staff, as it
is a clear example of progress.

16. Medical utility
With both studies provides the
possibility of reducing the morbidity
and mortality of each of these
diseases that affect a high
percentage of the population, as
well as better the quality of life and
decrease the costs of treatments

17. Medical utility
Early diagnosis would be a great help to
combat Alzheimer's disease avoiding neuronal
deterioration, which is why they are looking
for an approximation to the specific
biomarker and a few years time, there could
potentially be a vaccination against this cause
of Alzheimer's.

18. Medical utility
In addition to the use of body cells in the
treatment leading to an improvement, this
study shows that the eosinophils have a direct
role to play in processes in the body beyond
the immune system and this presents a new
area to investigate for a whole range of
illnesses

19. Bibliography
•Medical University of Vienna. "Alzheimer's disease: On
the hunt for the biomarker signal for early detection."
ScienceDaily. ScienceDaily, 27 March 2017. From
www.sciencedaily.com/releases/2017/03/1703270832
39.htm

•University of Manchester. "New role for immune cells in
preventing diabetes and hypertension." ScienceDaily.
ScienceDaily, 17 March 2017. From
www.sciencedaily.com/releases/2017/03/17031708251
0.htm

•Martinez Sanchez, Lina Maria. Biología Molecular. 7
ed. Medellín: UPB. Fac.Medicina