The FASEB Journal,
Journal Year:
2024,
Volume and Issue:
38(14)
Published: July 11, 2024
Abstract
DUX4
has
been
widely
reported
in
facioscapulohumeral
muscular
dystrophy,
but
its
role
Duchenne
dystrophy
(DMD)
is
unclear.
Dux
the
mouse
paralog
of
DUX4.
In
−/−
mdx
mice,
forelimb
grip
strength
test
and
treadmill
were
performed,
extensor
digitorum
longus
(EDL)
contraction
properties
measured
to
assess
skeletal
muscle
function.
Pathological
changes
mice
determined
by
serum
CK
LDH
levels
Masson
staining.
Inflammatory
factors,
oxidative
stress,
mitochondrial
function
indicators
detected
using
kits.
Primary
satellite
cells
isolated,
antioxidant
molecule
Nrf2
was
detected.
MTT
assay
Edu
used
evaluate
proliferation
TUNEL
for
cell
death.
The
results
show
that
deletion
enhanced
EDL
contractility,
prolonged
running
time
distance
mice.
Deleting
also
attenuated
fibrosis,
inflammation,
dysfunction
Furthermore,
deficiency
promoted
survival
increasing
Orphanet Journal of Rare Diseases,
Journal Year:
2024,
Volume and Issue:
19(1)
Published: Nov. 26, 2024
The
inaugural
Clinical
and
Scientific
Conference
on
Adenylosuccinate
Synthetase
1
(ADSS1)
myopathy
was
held
June
3,
2024,
at
the
National
Institutes
of
Health
(NIH)
Center
for
Advancing
Translational
Sciences
(NCATS)
in
Rockville,
Maryland,
USA.
ADSS1
is
an
ultra-rare,
inherited
neuromuscular
disease.
Features
geographical
patient
clusters
South
Korea,
Japan,
India
United
States
America
were
characterised
discussed.
Pre-clinical
animal
cell-based
models
discussed,
providing
unique
insight
into
disease
pathogenesis.
biochemical
pathogenesis
potential
therapeutic
targets
identified.
Potential
clinical
pre-clinical
biomarkers
An
consortium
established
a
roadmap
development
created.
Redox Biology,
Journal Year:
2021,
Volume and Issue:
48, P. 102196 - 102196
Published: Nov. 25, 2021
Mutations
in
the
human
LMNA
gene
cause
a
collection
of
diseases
called
laminopathies,
which
includes
muscular
dystrophy
and
dilated
cardiomyopathy.
The
encodes
lamins,
filamentous
proteins
that
form
meshwork
on
inner
side
nuclear
envelope.
How
mutant
lamins
muscle
disease
is
not
well
understood,
treatment
options
are
currently
limited.
To
understand
pathological
functions
so
therapies
can
be
developed,
we
generated
new
Drosophila
models
iPS
cell-derived
cardiomyocytes.
In
models,
muscle-specific
expression
caused
envelope
defects,
cytoplasmic
protein
aggregation,
activation
Nrf2/Keap1
redox
pathway,
reductive
stress.
These
defects
reduced
larval
motility
death
at
pupal
stage.
Patient-derived
cardiomyocytes
expressing
showed
deformations.
allowed
for
genetic
pharmacological
manipulations
organismal
level.
Genetic
interventions
to
increase
autophagy,
decrease
signaling,
or
lower
reducing
equivalents
partially
suppressed
lethality
by
lamins.
Moreover,
flies
with
pamoic
acid,
compound
inhibits
NADPH-producing
malic
enzyme,
lethality.
Taken
together,
these
studies
have
identified
multiple
factors
as
potential
therapeutic
targets
LMNA-associated
dystrophy.
Pharmaceuticals,
Journal Year:
2023,
Volume and Issue:
16(6), P. 822 - 822
Published: May 31, 2023
Adenylosuccinic
acid
(ASA)
is
an
orphan
drug
that
was
once
investigated
for
clinical
application
in
Duchenne
muscular
dystrophy
(DMD).
Endogenous
ASA
participates
purine
recycling
and
energy
homeostasis
but
might
also
be
crucial
averting
inflammation
other
forms
of
cellular
stress
during
intense
demand
maintaining
tissue
biomass
glucose
disposal.
This
article
documents
the
known
biological
functions
explores
its
potential
treatment
neuromuscular
chronic
diseases.
The FASEB Journal,
Journal Year:
2024,
Volume and Issue:
38(14)
Published: July 11, 2024
Abstract
DUX4
has
been
widely
reported
in
facioscapulohumeral
muscular
dystrophy,
but
its
role
Duchenne
dystrophy
(DMD)
is
unclear.
Dux
the
mouse
paralog
of
DUX4.
In
−/−
mdx
mice,
forelimb
grip
strength
test
and
treadmill
were
performed,
extensor
digitorum
longus
(EDL)
contraction
properties
measured
to
assess
skeletal
muscle
function.
Pathological
changes
mice
determined
by
serum
CK
LDH
levels
Masson
staining.
Inflammatory
factors,
oxidative
stress,
mitochondrial
function
indicators
detected
using
kits.
Primary
satellite
cells
isolated,
antioxidant
molecule
Nrf2
was
detected.
MTT
assay
Edu
used
evaluate
proliferation
TUNEL
for
cell
death.
The
results
show
that
deletion
enhanced
EDL
contractility,
prolonged
running
time
distance
mice.
Deleting
also
attenuated
fibrosis,
inflammation,
dysfunction
Furthermore,
deficiency
promoted
survival
increasing
