Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis
Genes,
Год журнала:
2025,
Номер
16(3), С. 281 - 281
Опубликована: Фев. 26, 2025
Background/Objectives:
Symptoms
of
pudendal
nerve
neuropathy
may
overlap
with
various
symptoms
interstitial
cystitis
(IC).
As
documented,
there
is
a
well-established
correlation
between
the
genes
involved
in
ATP
metabolism,
neuropathy,
and
IC.
ATP-binding
cassette
(ABC)
transporters
genes,
fact,
are
vital
for
signaling.
This
study
aims
to
associate
ABCF2
gene
suspected
Methods:
Histological
analysis
was
conducted
diagnosing
IC
while
genetic
variant
identified
by
whole
exome
sequencing
(WES)
Trio
confirmed
through
Sanger.
Results:
We
report
patient
IC,
histological
examination,
presenting
bladder
though
not
analytically
confirmed.
revealed
urothelial
detachment
caused
dense
subepithelial
lymphocytic
infiltrate,
predominantly
composed
mast
cells,
which
serve
as
key
diagnostic
markers
WES
heterozygous
c.1253T>G
p.Phe418Cys
within
gene,
precisely
its
functional
domain
actively
operates
hydrolysis
energizing
biological
systems.
reported,
this
displays
high
expression
patterns
tissue.
The
variant,
absent
healthy
brother,
inherited
from
father
presents
mosaicism.
silico
prediction
analyses
classified
pathogenic,
identifying
potential
alterations
protein
structure.
Conclusions:
Although
precise
role
should
be
supported
further
studies,
we
hypothesize
that
disruption
might
impair
likely
altering
nociceptive
response
leading
patient’s
neuropathy.
Further
imperative
validate
research,
laying
groundwork
specific
therapy
targeting
dysregulation
condition.
Язык: Английский
Comparative Transcriptome Profiling of Ileal and Cecal Tissues Between Pekin Ducks and Shaoxing Ducks
Genes,
Год журнала:
2025,
Номер
16(5), С. 488 - 488
Опубликована: Апрель 25, 2025
Background:
Pekin
ducks
are
well-known
meat-type
ducks,
whereas
Shaoxing
bred
for
their
egg-laying
abilities.
Growth
and
development
of
poultry
species
is
well
studied;
however,
very
little
known
regarding
differences
in
intestinal
gene
expression
between
ducks.
Methods:
To
investigate
we
conducted
transcriptome
analysis
on
ileal
cecal
tissues
from
five
42-day-old
per
breed,
raised
under
identical
housing
feeding
conditions
to
minimize
environmental
influences.
Results:
The
results
showed
that
a
total
379
differentially
expressed
genes
(DEGs)
with
p
<
0.05
|log2FoldChange|
>
1
were
identified
the
ileum
when
compared
among
which
158
upregulated
221
downregulated.
Compared
367
DEGs
ceca
204
163
Among
these
DEGs,
nine
reported
be
associated
growth
metabolism,
namely,
P2RX6,
KCNJ6,
CASQ2,
EHHADH,
ACSBG1,
ELOVL4,
AIF1L,
VILL,
FABP1.
Functional
enrichment
analyses
using
Gene
Ontology
(GO)
Kyoto
Encyclopedia
Genes
Genomes
(KEGG)
databases
indicated
significantly
involved
pathways
such
as
calcium
signaling,
unsaturated
fatty
acid
biosynthesis,
degradation,
tryptophan
metabolism.
Conclusions:
In
conclusion,
our
study
intestines
laying-type
offering
insights
into
genetic
basis
metabolic
differences.
Future
studies
should
validate
key
explore
influences
expression.
Язык: Английский
From Childhood Woes to Adult Blues: Unmasking the Role of Early Traumas, P2X7 Receptor, and Neuroinflammation in Anxiety and Depression
International Journal of Molecular Sciences,
Год журнала:
2025,
Номер
26(10), С. 4687 - 4687
Опубликована: Май 14, 2025
Early-life
stress
may
increase
the
risk
of
neuropsychiatric
disorders
via
immune
activation.
While
purinergic
signaling
pathway
is
implicated
in
psychiatric
disorders,
specific
role
P2X7
receptor
(P2X7R)
anxiety,
depression,
and
childhood
trauma
still
requires
further
clarification.
Upon
chronic
stress,
excessive
ATP
release
activates
P2X7R
signalling
brain
contributing
to
long-lasting
neuroinflammation,
which
potentially
promotes
development
disorders.
There
also
a
putative
link
between
gene,
located
on
chromosome
12q24,
anxiety
depression.
This
review
aims
systematically
examine
how
contributes
pathophysiology
depressive
with
particular
focus
early-life
(ELS).
It
offers
comprehensive
synthesis
current
findings,
emphasizing
previously
unexplored
intersections
signaling,
These
interactions
shape
long-term
offer
new
insights
into
potential
therapeutic
targets.
The
integrates
regarding
both
indirect
mechanisms-such
as
modulation
transmission
neuroinflammation
following
environmental
stressors
vulnerability-and
direct
genetic
associations
conditions,
including
influence
single-nucleotide
polymorphisms
(SNPs),
haplotypes,
other
variants
within
gene.
Special
emphasis
placed
impact
drawing
primarily
preclinical
findings
elucidate
underlying
mechanisms.
Язык: Английский