Mutant HTT does not affect glial development but impairs mielynation in the early disease stage.

1. Mariana Restrepo Rendón
Third semester
UPB
Molecular Biology

2. INTRODUCTION
MUTANT HTT
The gene to be studied in this
article is known as the Huntingtin
gene, which codes for a protein
called huntingtin nuclear protein,
which is active mainly in neuronal
cells.

3. INTRODUCTION
MIELINIZATION
Process focused on the axon
coating, which, in turn,
provides great protection and
good conduction of nerve
stimulation

4. GENERAL OBJECTIVE
To determine how a
mutation in the HTT gene
impairs myelination but
does not affect glial cell
development.

5. METHODS
Western blotting analysis Immunofluorescence staining
An analytical technique used for the
identification of specific proteins by the
implementation of gel electrophoresis
in which proteins are separated by
different approaches.
Technique used for the
visualization of a protein within
the cell and to demonstrate where
it is positioned within the cell.

6. METHODS
RNA seq analysis Quantitative PCR
Involves the identification of the
sequence of nucleotides in a
nucleic acid, or of amino acids in a
peptide or protein.
Amplification of a specific DNA
sequence is performed to make a
diagnosis.

7. RESULTS

8. RESULTS

9. AUTHOR AUTHOR´S APPROACH
AGREE OR
DISAGREE
Shin et al.
Since mutant HTT is also expressed in glial cells and
glial dysfunction contributes to HD neuropathology
Shirendeb et al.
The findings that mutant HTT reduces myelin protein
expression and myelination are consistent with several
previous reports that mutant HTT can affect axonal
integrity and myelination
Krämer-Albers
and White
In addition, axon-glial signaling is also critical for
myelination, and axonal diameter or electrical activity
influences myelination
DISCUSSION

10. CONCLUSIONS
Molecular biology makes it
possible to identify the
underlying damage of a disease.
In the case of Huntington's
disease, it is evidenced by the
determination of a mutation at
the genetic level that can trigger
the bad development of a
physiological process and this, in
turn, affects the whole organism
that suffers from it.
The mutation in the HTT gene
reduces the level of expression of
myelin proteins and with it, the
function of oligodendrocytes in
their synthesis. This is why a deep
analysis at the molecular level
allows to demonstrate the
effectiveness in the performance of
the cells of the organism and how
these can influence the diagnosis of
neurodegenerative diseases such
as Huntington's disease.

11. CONCEPTUAL
MAP