This document summarizes a study that aimed to identify genetic variants associated with neurocognitive impairment in perinatally HIV-infected children. The study used whole exome sequencing to identify potential genetic variants, real-time PCR to analyze gene expression, and ELISA and immunoblotting to quantify proteins. It found that knockdown of certain genes like RETREG1 and YWHAH were associated with increased inflammasome activation and altered autophagy, supporting the hypothesis that increased inflammation increases risk of neurocognitive issues. The conclusions emphasized that molecular biology techniques help identify regulatory proteins that can inform new treatments, and that genome-wide sequencing is important for pinpointing mutated genes causing disease.

1. Colección de primavera del 20XX
Isabella Osorno Muñoz
Alejandra Ospina Usuga
Medicina-III semestre
Universidad Pontificia Bolivariana

2. HIV (human immunodeficiency virus)
● Is a virus that attacks the immune system, in this case the CD4
lymphocytes, therefore, the body can no longer defend itself against
infections. Besides it will lead to AIDS
● You can get HIV from contact with infected blood, semen, or vaginal
fluids.
● Symptoms: fever, sore throat, muscle ache, joint pain, swollen lymph nodes
and skin rash
● Test: to diagnose HIV infection they will use a sample of your blood or
saliva. If the test is positive, a test to detect HIV DNA or RNA will be
done to be sure.

3. inflammation
● It is a response of the immune system to damage in the
body.
tissue
damage
release
of
mediators
mediator
effect
regulation
repair

4. OBJECTIVE
To identify host single-nucleotide
variants (SNVs) associated with
neurocognitive impairment (NCI) in
perinatally HIV-infected (PHIV) children.

5. METHODS
Real time PCR
● invitro enzymatic reaction that amplifies a specific DNA
sequence millions of times
● It is used cDNA as a substrate to analyze the mRNA
expression of a gene of interest

6. methods
INMUNOBLOOTING
● Detection and characterization of proteins by
recognition between antigen and antibody
Protein
transfer
Incubation
with
antibodies
Bands
formation

7. MÉTODOS
SECUENCIACIÓN DEL EXOMA COMPLETO
Técnica para conocer
la composición de
todos los exones de
una persona
Se compara esta
secuencia con una
secuencia de
referencia para
identificar mutaciones
Se usó para identificar posibles variantes
genéticas asociadas con deterioro cognitivo y
así poder estudiar la relación entre esos
polimorfismos y la neuroinflamación

8. MÉTODOS
ELISA
Técnica serológica en la que se
identifica ya sea un antígeno o
anticuerpo al utilizar un antígeno o
anticuerpo que fue absorbido a una
fase sólida o una superficie
Se usó en este artículo para cuantificar la IL-1β que
había en los sobrenadantes de cultivo de células de
la microglia
Enzima interactúa con
sustrato para colorear la
solución
color Ag o Ac

9. RESULTS

10. elecrophoresis 1

11. RESULTADO 3

12. RESULTADO 4

13. Author affirmation agree or not
Alvarez S, et al
Dunfee R, et al
Gonzalez-Scaran
o F, et al
Power C, et al
O´Brien W, et
al
Oliver Is, et
al
Numerous
studies have
examined
host and
viral
genetics in
an attempt
to identify
virus with
specific
neurotropism
and host
genetic
variants
that lead to
increased
susceptibili
ty to CNS
disease
AUTHOR AFFIRMATION AGREE OR NOT
Shi C, et
al
Nakahira K,
et al
Consisten with the
hypothesis that
increased
inflammation would
lead to increased a
risk for
neurocgnitive
impairment and
decreased
inflammation would
lead to a decreased
risk, knockdown of
RETREG1 and YWHAH
were associated with
increased NLRP3
inflammasome
actvation.
Additionally, we
found that knockdown
of RETREG1, YWHAH
and CCRL2 alter
autophagy, which is
an important
regulator of NLRP3
inflammasome
activity

14. conclusions
● Molecular biology through the identification of
regulatory proteins in the operon of prokaryotes has
helped in the creation of treatments that can help to
stop infectious processes
● Methods as the genome-wide exome sequencing are extremely
important when we need to know which gene is mutated and
causing an affection in the patient, and with that
information is easier to know the treatment
● The knowledge of the genes that can lead to a disease
make possible the knockout of those and in that way they
are silenced and the patient won't express the illness
that those genes could cause

15. MAPA 1

16. MAPA 2