Hello, this is my seminary about the article "Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
I hope this will be of you grate, see you later
2. (Introduction)
It acts as a
trafficking complex,
participate in vesicle
fusion, and in their
tethering correct
intracellular target
membrane.
The Transport
Protein Particle
(TRAPP)
4. (OBJETIVE )
Prove the importance of TRAPPC4
that’s expressed in the CNS, and
investigate like an alteration in this protein
affect the normal ability brain and it
caused severe syndromic intellectual
disability
5. (METHODS AND MATERIALS)
SDS- PAGE
Fundament: it's used to separate mix
proteins based on its size, and it evaluates
the purity of the protein
For what? : evaluates the proteins’
expression in the TRAPP complex.
SDS- PAGE
6. (METHODS AND MATERIALS)
RT-PCR
Fundament: Consists in the use of a
reverse transcriptase for synthesize the
complementary DNA.
For what? : this was use to found the
cDNA of the most representative proteins
of the TRAPP complex.
RT-PCR
7. (METHODS AND MATERIALS)
Q- PCR
Fundament: it's used to analyze and
quantifique the genetic expression on
real time
For what? : For analyze the genetic
expression of the TRAPP's proteins
complex
Q- PCR
TRAPPC4
8. (METHODS AND MATERIALS)
immunofluorescence
Fundament: technique for determining
the location of the protein marked with
an antigen that react with specific
antibody labeled with a fluorescent.
For what? : for determining the
transport speed in fibroblast with low
levels of the TRAPPC4
immunofluorescence
ce
9. ( Results )
autosomal recessive inheritance
Parents
Heterozygous
GG
AA
GA
They can to have sons:
13. (Discusion)
Autor Argument Yes or not
Sacher
The clinical manifestations in these subjects correlate well
with subjects with patho- genic variants in other TRAPP
complexes, collectively termed TRAPPopathies.
Bergmann and
Singer
To determine whether the reduced TRAPPC4 levels block
membrane trafficking and secretion we monitored move-
ment of VSVG–GFP ts045 along the secretory pathway
Bogershausen
The trafficking delay due to decreased TRAPPC4/ Trs23
levels is consistent with membrane trafficking dys- function
from reduced levels of other TRAPP proteins associated
with human disease
14. (conclusions)
The disminution in the levels of the TRAPPC4, in the TRAPP complex
without reduction of other proteins cause neurological alterations,
microcephaly, intelectual disability. I love investigates like these, because it's the
oportunity to understand a little more the brain and its alterations. I think this
was and excellent work, with the materials and methods corrects. The
cientifics knew about the topic.
The molecular biology is the key of the world, it's the right hand of the medics
for understand that happen in our internal world that affect our health state
and then how can we to recover the homeostasis
