Autistic
adults
have
higher
blood
levels
of
fatty-acid
metabolites,
on
average,
than
nonautistic
adults.Autism
Research
Many
autism-linked
genes
encode
immune-system
proteins
that
contribute
Genes,
Год журнала:
2024,
Номер
15(11), С. 1362 - 1362
Опубликована: Окт. 24, 2024
PhenoMetaboDiff
is
a
novel
R
package
for
computational
analysis
and
visualization
of
data
generated
by
Biolog
Phenotype
Mammalian
Microarrays
(PM-Ms).
These
arrays
measure
the
energy
production
mammalian
cells
in
different
metabolic
environments,
assess
activity
exposed
to
various
drugs
or
sources,
compare
profiles
from
individuals
affected
specific
disorders
versus
healthy
controls.
Russian Journal of Immunology,
Год журнала:
2024,
Номер
27(4), С. 819 - 824
Опубликована: Окт. 25, 2024
Autism
spectrum
disorders
(ASD)
are
a
heterogeneous
group
of
mental
and
nervous
system
disorders.
Patients
with
ASD
characterized
by
communication
cognitive
impairments
obsessive
behavior.
The
pathogenesis
etiology
still
unclear.
According
to
the
literature,
patients
suffering
from
have
not
only
mental,
but
also
somatic
disorders,
including
changes
in
immune
system.
aim
this
work
was
study
concentration
cytokines
blood
plasma
children
level
expression
proinflammatory
genes
peripheral
mononuclear
cells.
clinical
included
71
aged
4-12
years
diagnosis
(F84.02).
scored
more
than
36
on
Childhood
Rating
Scale
(CARS).
control
sample
27
apparently
healthy
same
age.
following
methods
were
used
study:
isolation
cells
heparinized
blood,
Ficoll-Verografin
density
gradient
centrifugation,
evaluation
cytokine
blocks
using
commercially
available
enzyme
immunoassay
kits,
random
total
RNA,
reverse
transcription
hexaprimers,
real-time
polymerase
chain
reaction
intercalating
dye
SYBR
Green.
IL-1β,
IL-8,
IL-17A
statistically
significantly
increased
compared
sample.
Moreover,
anti-inflammatory
IL-10
3.6
times
lower
(p
0.001).
NF-κB1,
IL1β,
IL8
TNFα
at
RNA
2.8,
2.5,
4.8
4.2
(all
p
0.01).
results
obtained
indicate
an
increase
(IL-1β,
IL-17A)
decrease
(IL-10)
sequence.
Research Square (Research Square),
Год журнала:
2024,
Номер
unknown
Опубликована: Дек. 3, 2024
AbstractBackground
Understanding
the
functional
implications
of
genes’
variants
related
to
autism
heterogeneity
represents
a
crucial
challenge.
Gene
set
analysis
examines
combined
effect
multiple
genes
with
convergent
biological
functions.
Here
we
explored
whether
multi-step
could
identify
gene
sets
relevant
subtyping
in
terms
different
loads
possibly
damaging
(PDVs)among
two
subgroups
autistic
children.
Methods
After
subdividing
our
sample
71
children
(3-12
years)
higher
(>80;
n=43)
and
lower
(≤80;
n=28)
intelligence
quotient
(IQ),
variant
enrichment
identified
significantly
incidence
PDVs
between
subgroups.
Significant
were
then
clustered
into
modules
genes.
Their
brain
expression
was
investigated
according
BrainSpan
Atlas
Developing
Human
Brain.
Next,
extended
each
module
by
selecting
that
spatio-temporally
co-expressed
developing
physically
interacting
those
modules.
Last,
susceptibility
within
original
Results
Our
38
significant
(FDR,
q<0.05),
which
four
involved
ion
cell
communication,
neurocognition,
gastrointestinal
function,
immune
system.
Those
highly
expressed
specific
structures
across
developmental
stages.
Spatio-temporal
co-expression
development
physical
protein
interactions
clusters
where
found
an
over-representation
Limitations
The
size
this
work
is
limited.
also
limited
disease-associated
subsection
exome.
Conclusions
unbiased
approach
functionally
pathophysiology
relatively
small
participants,
providing
evidence
their
implication
phenotypic
differences
findings
interconnections
suggest
diversity
likely
originates
from
pathways.
Future
research
leverage
present
genetic
pathways
subtyping.
Autistic
adults
have
higher
blood
levels
of
fatty-acid
metabolites,
on
average,
than
nonautistic
adults.Autism
Research
Many
autism-linked
genes
encode
immune-system
proteins
that
contribute