2. 02
RNA‑helicase DHX30 by ALS/
FTD‑linked FUS
RNA-HELICASE DHX30: DHX30 is an ATP-dependent
RNA helicase located mainly within the mitochondrial
matrix and comprises the mitochondrial RNA granule,
This gene codes proteins.
ALS/FTD-linked FUS: Fused in sarcoma (FUS) is a
DNA/RNA binding protein containing 526 amino
acids, that if mutated can cause amyotrophic lateral
sclerosis (ALS) and frontotemporal disorders (FTD)
3. Mythocondrial Dysfuction: Mitochondrial
dysfunction occurs when the mitochondria
don't work as well as they should due to
another disease or condition. Many
conditions can lead to secondary
mitochondrial dysfunction and affect other
diseases.
In this case the dysfuction is cause by a
conformational change in RNA-Helicase
BHX30, cause by a mutation in FUS gene, it
also generated cytosolic aggregation
mitochondrial
dysfunction
03
4. Study how conformational change
of RNA‑helicase DHX30 byALS/
FTD‑linked FUS induces
mitochondrial dysfunction and
cytosolic aggregates
04
5. Methods
05
Immunoprecipitation and LC–
MS/MS analysis.
SDS‑PAGE and BN‑PAGE
Its is used mainly to
identify targets that bind
to a protein of interest.
It was used to analize
protein/peptides
complexes on SH-SY5Y
cells
is an analytical technique to
separate proteins based on
their molecular weight.
can be used for one-step
isolation of protein complexes
from biological membranes and
total cell and tissue
homogenates
This method was used for
mythocondrial isolation
6. Methods
06
Methods
Immunofuorescence and
microscopic analysis.
Quantitative real‑time PCR.
is a technique used for light
microscopy with a fluorescence
microscope and is used primarily
on biological samples
It was used to see the fluoresence
on cultured cell for their analysis
and see if the RNA-Helicase BXH30
was affected
is a technique used for rapid and
sensitive determination and
quantitation of nucleic acid in
various biological samples
The mRNA expression levels were
analyzed using real-time PCR
Detection to see if it was affected
9. AUTHOR WHAT HE SAID AGREE/DISAGREE
Deng, J.
It is conceivable that the higher expression
level of FUS WT is also toxic, which is
supported by a report describing several
mutations in the 3′ untranslated region (UTR)
of the FUS gene identifed in ALS patients
Wang, Y. & Bogenhagen, D. F
Antonicka, H. & Shoubridge
DHX30 is an ATP-dependent RNA helicase
located mainly within the mitochondrial
matrix and comprises the mitochondrial RNA
granule
Abe, K
Edaravone, an FDA-approved free radical
scavenger, has exhibited only a small efect in
reducing disease progression in early ALS
patients
Discussion
Agree
Agree
Agree
09
10. Conclusions
The use of different molecular
biology techniques have helped to
have a better undertanding of how
many pathologic deseases work
Molecular biology can help us to
develop different treatmets for
different kind of diseases that to
the naked eye can be imposible to
resolve
10
