Monogenic Mutations

1. Alejandra Morales Montoya
Medicine student

2. MONOGENIC
MUTATIONS
By: Alejandra
Morales Montoya
Molecular biology
Teacher: Lina María
Martínez
BIBLIOGRAPHY
• Adriana María Salazar Montes,
Ana Soledad Sandoval Rodríguez,
Juan Socorro Armendáriz
Borunda. Biología Molecular.
Fundamentos y aplicaciones en
las ciencias de la salud. 2 ed.
McGRAW-HILL/INTERAMERICANA
EDITORES.
• LINA MARÍA MARTÍNEZ SANCHEZ.
BIOLOGÍA MOLECULAR. 7 ED. UPB:
FACULTAD DE MEDICINA
Medical utility
It is important to know
the mutations that exist
in the human genome,
monogenic
or
polygenic,
which are
response-
ble for the
different
diseases
that exist
and in that
way, focus
the
medical
treatment that is needed
in each case because in
polygenic mutations
must take into account
many more variable than
in the monogenic
mutations.

3. INTRODUCTION
Monogenic diseases are
also known as Mendelian
hereditary diseases; are
produced
by
alteration
of a single
gene that
can be
deletions,
translocati
ons,
investments,
etc. At
present
more than
6.000
diseases are
known;
around 1%
of children
born alive
have any of
these
diseases.
Monogenic
mutation and
atopic dermatitis
Researchers have identified
mutations in a gene that lead to
atopic dermatitis, or eczema, an
allergic skin disease.
How they
knowing? The
scientists
analyzed the
genetic
sequences of
patients with
severe atopic
dermatitis and
identified eight
individuals
from four
families with
mutations in
the CARD11 gen
e.
What did they find? they found
that the mutations
in CARD11 could cause atopic
dermatitis without leading to
other medical issues often
found in severe immune system
syndromes.
Student´s opinion: It´s
important know the specific
mutation of the diseases
because in that way we can know
the medical issues and how to
treat them.
Fragile X
syndrome and
threatening
emotion
Anxiety occurs at high rates in
children with fragile X
syndrome (FXS). What they do?
They studied
attention to
emotional faces
in 47 children
with FXS,
ranging from
several months
to about 5.5
years old,
compared with
typically
developing
children.
Is it useful? The
findings may
help develop a
marker to
identify anxiety
in FXS patients
and open avenues for future
treatment options.
Student´s opinion: I believe that
knowing the possible behaviors
that a child with FXS can have
gives the possibility of having a
good treatment for these

4. INTRODUCTION
there are pairs of
hereditary
elements (genes)
Mendel studied constant defined
characters and conclude that …
the genes are
secreted in
meiosis

5. Single-gene mutations that
lead to atopic dermatitis
identified
2017, June 19

6. Single-gene mutations that lead to atopic dermatitis
identified
all the mutations had
similar effects on T-cell
signaling, defective
activation of two cell-
signaling pathways, one of
which typically is activated
in part by glutamine.
Each of the four families
had a distinct mutation
that affected a different
region of the CARD11
protein

7. Single-gene mutations that lead to atopic dermatitis
identified
Growing cultured T
cells from patients
with CARD11 mutations
with excess glutamine
boosted mTORC1
activation
a key part of one of the
affected pathways
potential to partially correct the cell-signaling defects

8. Single-gene mutations that lead to atopic dermatitis
identified
supplemental glutamine and leucine suggesting the potential to
partially correct the cell-signaling defects that may contribute
to atopic dermatitis

9. it is important to know
the mutations that are
responsible for the
different diseases and
their consequences to
develop an appropriate
treatment for this
medical issues
Student´s opinión

10. Children with fragile X syndrome
have a bias toward threatening
emotion
2017, August 23

11. Children with fragile X syndrome have a bias toward
threatening emotion
studied attention to emotional faces in 47 children with FXS, ranging
from several months to about 5.5 years old, compared with typically
developing children.

12. Children with fragile X syndrome have a bias toward
threatening emotion
"We demonstrate for the
first time that young
children with FXS show a
significantly greater bias
towards threatening than
positive emotions than do
typically developing
children,"

13. Children with fragile X syndrome have a bias toward
threatening emotion
According to Rivera,
the findings provide a
target for treatment
of anxiety in FXS
through the
modification of
attention bias toward
positive emotion rather
than threat, which has
been shown to work in
children with
symptoms of anxiety.

14. Student´s opinión
It´s important to
continue the studies of
this disease because in
that way it can be
offered to the
children with FXS a
better quality of life

15. Medical utility

16. Medical utility
Make the appropriate studies and
the correctly interpretation of
their results gives origin to new
therapies that supply the needs
arising from the expression of
genetic mutations.

17. Medical utility
Know better all the problems caused by
the expression of monogenic disorders,
such as fragile X syndrome and atopic
dermatitis, gives the opportunity to
develop therapies that improve the
quality of life of these patients.

18. Medical utility
Knowing the exact mutation that is
in the genome of the patient gives
the possibility to know better its
disease and to be able to prevent
symptoms that develop with the
passage of time.

19. bibliography
Adriana María Salazar Montes, Ana Soledad
Sandoval Rodríguez, Juan Socorro
Armendáriz Borunda. Biología Molecular.
Fundamentos y aplicaciones en las ciencias
de la salud. 2 ed. McGRAW-
HILL/INTERAMERICANA EDITORES
LINA MARÍA MARTÍNEZ SANCHEZ. BIOLOGÍA
MOLECULAR. 7 ED. UPB: FACULTAD DE
MEDICINA

20. “studying
medicine is the
closest thing to
love; you suffer,
suffer and
suffer, but you
never want to
leave it”.
anonymous