International Journal of Molecular Sciences,
Год журнала:
2025,
Номер
26(8), С. 3579 - 3579
Опубликована: Апрель 10, 2025
Abnormalities
in
X
chromosomes,
either
numerical
or
structural,
cause
X-linked
disorders,
such
as
Duchenne
muscular
dystrophy
(DMD).
Recent
molecular
and
cytogenetic
techniques
can
help
identify
DMD
gene
mutations.
The
accurate
diagnosis
of
is
crucial,
directly
impacting
patient
treatment
management,
genetics,
the
establishment
effective
prevention
strategies.
This
review
provides
an
overview
chromosomal
disorders
affecting
discusses
how
mutations
Dystrophin
domains
impact
detection
accuracy.
Firstly,
efficiency
use
for
genetic
disease
have,
thus,
become
increasingly
important.
Secondly,
artificial
intelligence
(AI)
will
be
instrumental
developing
future
therapies
by
enabling
aggregation
synthesis
extensive
heterogeneous
datasets,
thereby
elucidating
underlying
mechanisms.
However,
despite
advances
diagnostic
technology,
understanding
role
remains
a
challenge.
Therefore,
this
aims
to
synthesize
complex
information
significantly
advance
it
could
affect
care.
International Journal of Molecular Sciences,
Год журнала:
2024,
Номер
25(9), С. 4767 - 4767
Опубликована: Апрель 27, 2024
Circadian
clock
and
clock-controlled
output
pathways
exert
temporal
control
in
diverse
aspects
of
skeletal
muscle
physiology,
including
the
maintenance
mass,
structure,
function,
metabolism.
They
have
emerged
as
significant
players
understanding
disease
etiology
potential
therapeutic
avenues,
particularly
Duchenne
muscular
dystrophy
(DMD).
This
review
examines
intricate
interplay
between
circadian
rhythms
highlighting
how
disruptions
regulation
may
contribute
to
pathophysiology
specific
mechanisms
linking
dysregulation
with
DMD.
Moreover,
we
discuss
recent
advancements
chronobiological
research
that
shed
light
on
function
its
relevance
Understanding
involved
mass
offers
novel
insights
into
pathogenesis
DMD
unveils
promising
avenues
for
interventions.
We
further
explore
chronotherapeutic
strategies
targeting
ameliorate
degeneration
which
inform
drug
development
efforts
dystrophy.
Frontiers in Cell and Developmental Biology,
Год журнала:
2024,
Номер
12
Опубликована: Май 22, 2024
Skeletal
muscle
regeneration
relies
on
the
intricate
interplay
of
various
cell
populations
within
niche—an
environment
crucial
for
regulating
behavior
stem
cells
(MuSCs)
and
ensuring
postnatal
tissue
maintenance
regeneration.
This
review
delves
into
dynamic
interactions
among
key
players
this
process,
including
MuSCs,
macrophages
(MPs),
fibro-adipogenic
progenitors
(FAPs),
endothelial
(ECs),
pericytes
(PCs),
each
assuming
pivotal
roles
in
orchestrating
homeostasis
Dysfunctions
these
can
lead
not
only
to
pathological
conditions
but
also
exacerbate
muscular
dystrophies.
The
exploration
cellular
molecular
crosstalk
both
physiological
dystrophic
provides
insights
multifaceted
communication
networks
governing
Furthermore,
discusses
emerging
strategies
modulate
muscle-regenerating
niche,
presenting
a
comprehensive
overview
current
understanding
innovative
approaches.
Frontiers in Physiology,
Год журнала:
2024,
Номер
15
Опубликована: Дек. 9, 2024
Duchenne
muscular
dystrophy
(DMD)
is
caused
by
mutations
in
the
gene
encoding
dystrophin,
a
subsarcolemmal
protein
whose
absence
results
increased
susceptibility
of
muscle
fiber
membrane
to
contraction-induced
injury.
This
calcium
influx,
oxidative
stress,
and
mitochondrial
dysfunction,
leading
chronic
inflammation,
myofiber
degeneration,
reduced
regenerative
capacity.
Fast
glycolytic
fibers
have
been
shown
be
more
vulnerable
mechanical
stress
than
slow
both
DMD
patients
mouse
models.
Therefore,
remodeling
skeletal
toward
slower,
phenotype
may
represent
relevant
therapeutic
approach
protect
dystrophic
muscles
from
deterioration
improve
effectiveness
cell-based
therapies.
The
resistance
slow,
myofibers
pathology
attributed,
part,
their
higher
expression
Utrophin;
there
are,
however,
other
characteristics
that
might
contribute
enhanced
injury,
including
contractile
speed,
fatigue,
capillary
density,
activity,
decreased
cellular
energy
requirements.
review
focuses
on
signaling
pathways
regulatory
factors
genetic
or
pharmacologic
modulation
has
ameliorate
preclinical
models
while
promoting
transition
towards
slower
phenotype.
