MedComm,
Journal Year:
2024,
Volume and Issue:
5(3)
Published: March 1, 2024
Abstract
Autism
spectrum
disorder
(ASD)
has
become
a
common
neurodevelopmental
disorder.
The
heterogeneity
of
ASD
poses
great
challenges
for
its
research
and
clinical
translation.
On
the
basis
reviewing
ASD,
this
review
systematically
summarized
current
status
progress
pathogenesis,
diagnostic
markers,
interventions
ASD.
We
provided
an
overview
molecular
mechanisms
identified
by
multi‐omics
studies
convergent
mechanism
in
different
genetic
backgrounds.
comorbidities,
associated
with
important
physiological
metabolic
abnormalities
(i.e.,
inflammation,
immunity,
oxidative
stress,
mitochondrial
dysfunction),
gut
microbial
were
reviewed.
non‐targeted
omics
targeting
markers
also
Moreover,
we
methods
behavioral
educational
interventions,
intervention
related
to
technological
devices,
on
medical
potential
drug
targets.
This
highlighted
application
high‐throughput
emphasized
importance
seeking
homogeneity
from
exploring
convergence
disease
mechanisms,
biomarkers,
approaches,
proposes
that
taking
into
account
individuality
commonality
may
be
key
achieve
accurate
diagnosis
treatment
Journal of Neuroinflammation,
Journal Year:
2024,
Volume and Issue:
21(1)
Published: May 7, 2024
Maternal
inflammation
during
gestation
is
associated
with
a
later
diagnosis
of
neurodevelopmental
disorders
including
autism
spectrum
disorder
(ASD).
However,
the
specific
impact
maternal
immune
activation
(MIA)
on
placental
and
fetal
brain
development
remains
insufficiently
understood.
This
study
aimed
to
investigate
effects
MIA
by
analyzing
tissues
obtained
from
offspring
pregnant
C57BL/6
dams
exposed
polyinosinic:
polycytidylic
acid
(poly
I:
C)
embryonic
day
12.5.
Cytokine
mRNA
content
in
placenta
were
assessed
using
multiplex
cytokine
assays
bulk-RNA
sequencing
17.5.
In
placenta,
male
exhibited
higher
levels
GM-CSF,
IL-6,
TNFα,
LT-α,
but
there
no
differences
female
offspring.
Furthermore,
differentially
expressed
genes
(DEG)
found
be
enriched
processes
related
synaptic
vesicles
neuronal
development.
Placental
both
terms,
whereas
females
also
for
terms
excitatory
inhibitory
signaling.
offspring,
increased
IL-28B
IL-25
observed
LT-α
Notably,
we
identified
few
stable
DEG,
difference
had
DEG
Overall,
these
findings
support
hypothesis
that
contributes
sex-
abnormalities
ASD,
possibly
through
altered
neuron
developed
exposure
inflammatory
cytokines.
Future
research
should
aim
how
interactions
between
contribute
context
MIA.
ABSTRACT
Background
Adenosine
deaminase
action
on
RNA
1
(ADAR1)
can
convert
the
adenosine
in
double‐stranded
(dsRNA)
molecules
into
inosine
a
process
known
as
A‐to‐I
editing.
ADAR1
regulates
gene
expression
output
by
interacting
with
and
other
proteins;
plays
important
roles
development,
including
growth;
is
linked
to
innate
immunity,
tumors,
central
nervous
system
(CNS)
diseases.
Results
In
recent
years,
role
of
tumors
has
been
widely
discussed,
but
its
CNS
diseases
not
reviewed.
It
worth
noting
that
studies
have
shown
great
potential
treatment
neurodegenerative
diseases,
mechanisms
are
still
unclear.
Therefore,
it
necessary
elaborate
Conclusions
Here,
we
focus
effects
such
Aicardi–AicardiGoutières
syndrome,
Alzheimer's
disease,
Parkinson's
glioblastoma,
epilepsy,
amyotrophic
lateral
sclerosis,
autism.
We
also
evaluate
impact
ADAR1‐based
strategies
these
particular
development
new
technologies
microRNAs,
nanotechnology,
editing,
stem
cell
therapy.
hope
provide
directions
insights
for
future
editing
technology
brain
science
Biomolecules,
Journal Year:
2023,
Volume and Issue:
13(10), P. 1549 - 1549
Published: Oct. 19, 2023
Autism
Spectrum
Disorder
(ASD),
a
neurodevelopmental
disorder
characterized
by
persistent
deficits
in
social
interaction
and
communication,
manifests
early
childhood
is
followed
restricted
stereotyped
behaviors,
interests,
or
activities
adolescence
adulthood
(DSM-V).
Although
genetics
environmental
factors
have
been
implicated,
the
exact
causes
of
ASD
yet
to
be
fully
characterized.
New
evidence
suggests
that
dysbiosis
perturbation
gut
microbiota
(GM)
exposure
lead
(Pb)
may
play
important
roles
etiology.
Pb
toxic
heavy
metal
has
linked
wide
range
negative
health
outcomes,
including
anemia,
encephalopathy,
gastroenteric
diseases,
and,
more
importantly,
cognitive
behavioral
problems
inherent
ASD.
can
disrupt
GM,
which
essential
for
maintaining
overall
health.
consisting
trillions
microorganisms,
shown
crucial
role
development
various
physiological
psychological
functions.
GM
interacts
with
brain
bidirectional
manner
referred
as
“Gut–Brain
Axis
(GBA)”.
In
this
review,
following
general
overview
context
emphasized.
The
potential
exploitation
therapeutic
purposes
also
touched
upon.
Cell Communication and Signaling,
Journal Year:
2024,
Volume and Issue:
22(1)
Published: Feb. 17, 2024
Abstract
Abnormal
inflammatory
states
in
the
brain
are
associated
with
a
variety
of
diseases.
The
dynamic
changes
number
and
function
immune
cells
cerebrospinal
fluid
(CSF)
advantageous
for
early
prediction
diagnosis
diseases
affecting
brain.
aggregated
factors
inflamed
CSF
may
represent
candidate
targets
therapy.
physiological
barriers
brain,
such
as
blood‒brain
barrier
(BBB),
establish
stable
environment
distribution
resident
cells.
However,
underlying
mechanism
by
which
peripheral
migrate
into
their
role
maintaining
homeostasis
still
unclear.
To
advance
our
understanding
causal
link
between
cell
status,
we
investigated
characteristics
molecular
mechanisms
involved
common
Furthermore,
summarized
diagnostic
treatment
methods
related
cytokines
used
targets.
Further
investigations
new
subtypes
contributions
to
development
needed
improve
specificity
Schizophrenia Bulletin,
Journal Year:
2024,
Volume and Issue:
50(6), P. 1382 - 1395
Published: March 29, 2024
Abstract
Background
and
Hypothesis
The
synaptic
pruning
hypothesis
posits
that
schizophrenia
(SCZ)
autism
spectrum
disorder
(ASD)
may
represent
opposite
ends
of
neurodevelopmental
disorders:
individuals
with
ASD
exhibit
an
overabundance
synapses
connections
while
SCZ
was
characterized
by
excessive
a
reduction.
Given
the
strong
genetic
predisposition
both
disorders,
we
propose
shared
component,
certain
loci
having
differential
regulatory
impacts.
Study
Design
Genome-Wide
single
nucleotide
polymorphism
(SNP)
data
European
descent
from
(N
cases
=
53
386,
N
controls
77
258)
18
381,
27
969)
were
analyzed.
We
used
correlation,
bivariate
causal
mixture
model,
conditional
false
discovery
rate
method,
colocalization,
Transcriptome-Wide
Association
(TWAS),
Phenome-Wide
(PheWAS)
to
investigate
overlap
gene
expression
pattern.
Results
found
positive
correlation
between
(rg
.26,
SE
0.01,
P
7.87e−14),
11
genomic
jointly
influencing
conditions
(conjFDR
<0.05).
Functional
analysis
highlights
significant
enrichment
genes
during
early
mid-fetal
developmental
stages.
A
notable
region
on
chromosome
17q21.31
(lead
SNP
rs2696609)
showed
evidence
colocalization
(PP.H4.abf
0.85).
This
rs2696609
is
linked
many
imaging-derived
brain
phenotypes.
TWAS
indicated
opposing
patterns
(primarily
pseudogenes
long
noncoding
RNAs
[lncRNAs])
for
in
some
(LRRC37A4P,
LINC02210,
DND1P1)
considerable
variation
cerebellum
across
lifespan.
Conclusions
Our
findings
support
basis
ASD.
common
variant,
rs2696609,
located
Chr17q21.31
locus,
exert
risk
regulation
altering
structure.
Future
studies
should
focus
role
pseudogenes,
lncRNAs,
disorders.
International Journal of Molecular Sciences,
Journal Year:
2023,
Volume and Issue:
24(3), P. 3057 - 3057
Published: Feb. 3, 2023
Autism
spectrum
disorder
(ASD)
is
one
of
the
most
common
neurodevelopment
disorders,
characterized
by
a
multifactorial
etiology
based
on
interaction
genetic
and
environmental
factors.
Recent
evidence
supports
neurobiological
hypothesis
neuroinflammation
theory.
To
date,
there
are
no
sufficiently
validated
diagnostic
prognostic
biomarkers
for
ASD.
Therefore,
we
decided
to
investigate
potential
role
ASD
two
well
known
other
neurological
inflammatory
conditions:
glial
fibrillary
acidic
protein
(GFAP)
neurofilament
(Nfl).
Nfl
GFAP
serum
levels
were
analyzed
using
SiMoA
technology
in
group
patients
healthy
control
(CTRS),
age-
gender-matched.
Then
investigated
distribution,
frequency,
correlation
between
clinical
data
among
group.
The
comparison
children
showed
mean
value
these
markers
significantly
higher
(sNfL
pt
6.86
pg/mL
median
5.7
pg/mL;
CTRS
3.55
3.1
pg;
205.7
155.4
77.12
63.94
pg/mL).
Interestingly,
also
found
statistically
significant
positive
hyperactivity
symptoms
(p-value
<0.001).
Further
investigations
larger
groups
necessary
confirm
our
verify
more
depth
features,
such
as
severity
core
symptoms,
presence
associated
and/or
evaluation
therapeutic
intervention.
However,
not
only
might
shed
light
neurobiology
ASD,
supporting
neurodegeneration
hypothesis,
but
they
support
use
early
diagnosis
longitudinally
monitor
disease
activity,
even
future
biomarkers.
