Human Molecular Genetics,
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 29, 2025
Amyloid-PET
imaging
tracks
the
accumulation
of
amyloid
beta
(Aβ)
deposits
in
brain.
Amyloid
plaques
may
begin
10
to
20
years
before
individual
experiences
clinical
symptoms
associated
with
Alzheimer's
diseases
(ad).
Recent
large-scale
genome-wide
association
studies
reported
common
risk
factors
brain
amyloidosis,
suggesting
that
this
endophenotype
is
driven
by
genetic
variants.
However,
these
loci
pinpoint
large
genomic
regions
and
functional
variants
remain
be
identified.
To
identify
new
deposition,
we
performed
whole-genome
sequencing
on
a
cohort
European
descent
individuals
PET
data
(n
=
1,888).
Gene-based
analysis
for
coding
was
using
SKAT-O
as
quantitative
identified
significant
APOE
(P
2.45
×
10-10),
26
candidate
genes
suggestive
significance
<
5.
0
10-03)
including
SCN7A
7.31
10-05),
SH3GL1
7.56
10-04),
MFSD12
8.51
10-04).
Enrichment
highlighted
lipid
binding
pathways
Aβ
deposition
PITPNM3
4.27
10-03),
AP2A2
1.06
Overall,
our
strongly
support
connection
between
metabolism
Our
study
illuminates
promising
avenues
therapeutic
interventions
targeting
address
amyloidosis.
Alzheimer s & Dementia,
Год журнала:
2024,
Номер
20(9), С. 6590 - 6605
Опубликована: Июль 19, 2024
Abstract
INTRODUCTION
The
apolipoprotein
E
gene
(
APOE
)
is
an
established
central
player
in
the
pathogenesis
of
Alzheimer's
disease
(AD),
with
distinct
apoE
isoforms
exerting
diverse
effects.
influences
not
only
amyloid‐beta
and
tau
pathologies
but
also
lipid
energy
metabolism,
neuroinflammation,
cerebral
vascular
health,
sex‐dependent
manifestations.
Furthermore,
ancestral
background
may
significantly
impact
link
between
AD,
underscoring
need
for
more
inclusive
research.
METHODS
In
2023,
Association
convened
multidisciplinary
researchers
at
“AAIC
Advancements:
APOE”
conference
to
discuss
various
topics,
including
their
roles
AD
pathogenesis,
progress
apoE‐targeted
therapeutic
strategies,
updates
on
models
interventions
that
modulate
expression
function.
RESULTS
This
manuscript
presents
highlights
from
provides
overview
opportunities
further
research
field.
DISCUSSION
Understanding
apoE's
multifaceted
will
help
develop
targeted
advance
field
precision
medicine.
Highlights
a
disease.
exerts
numerous
effects
throughout
brain
amyloid‐beta,
tau,
other
pathways.
AAIC
encouraged
discussions
collaborations
understanding
role
APOE.
Frontiers in Endocrinology,
Год журнала:
2025,
Номер
16
Опубликована: Янв. 22, 2025
Post-stroke
cognitive
impairment
(PSCI)
is
a
common
complication
following
stroke
that
significantly
affects
patients’
quality
of
life
and
rehabilitation
outcomes.
It
also
imposes
heavy
economic
burden.
There
an
urgent
need
to
better
understand
the
pathophysiology
pathogenesis
PSCI,
as
well
identify
markers
can
predict
PSCI
early
in
clinical
stage,
facilitating
prevention,
monitoring,
treatment.
Although
mechanisms
underlying
are
complex
multifaceted,
involving
factors
such
atherosclerosis
neuroinflammation,
metabolic
disorders
play
critical
role.
This
article
primarily
reviews
relationship
between
three
major
nutrients—sugar,
fat,
protein—and
development
dysfunction
ischemic
(IS).
aims
elucidate
how
these
disturbances
contribute
post-stroke
explore
potential
biomarkers
for
PSCI.
We
believe
this
review
will
offer
new
insights
into
identification,
treatment,
prognostic
assessment
Heliyon,
Год журнала:
2025,
Номер
11(1), С. e41620 - e41620
Опубликована: Янв. 1, 2025
Chronic
kidney
disease
(CKD)
is
by
far
the
most
prevalent
in
world
and
now
a
major
global
public
health
problem
because
of
increase
diabetes,
hypertension
obesity.
Traditional
biomarkers
function
lack
sensitivity
specificity
for
early
detection
monitoring
CKD
progression,
necessitating
more
sensitive
diagnostic
intervention.
Dyslipidemia
hallmark
CKD.
Advancements
mass
spectrometry
(MS)-based
lipidomics
platforms
have
facilitated
comprehensive
analysis
lipids
biological
samples
revealed
changes
lipidome
that
are
associated
with
metabolic
disorders,
which
can
be
used
as
new
diseases.
It
also
critical
discovery
therapeutic
targets
drugs.
In
this
article,
we
focus
on
CKD,
methodologies
their
applications
Additionally,
introduce
novel
identified
through
approaches
natural
products
derived
from
treatment
We
believe
our
study
makes
significant
contribution
to
literature
demonstrating
improve
lipidomic
perspective.
Viruses,
Год журнала:
2025,
Номер
17(2), С. 239 - 239
Опубликована: Фев. 9, 2025
Gene
therapy
offers
promising
potential
as
an
efficacious
and
long-lasting
therapeutic
option
for
genetic
conditions,
by
correcting
defective
mutations
using
engineered
vectors
to
deliver
material
host
cells.
Among
these
vectors,
adeno-associated
viruses
(AAVs)
stand
out
their
efficiency,
versatility,
safety,
making
them
one
of
the
leading
platforms
in
gene
therapy.
The
enormous
AAVs
has
been
demonstrated
through
use
over
225
clinical
trials
FDA’s
approval
six
AAV-based
products,
positioning
at
forefront
field.
This
review
highlights
evolution
current
applications
therapy,
focusing
on
successes,
ongoing
developments,
manufacturing
processes
required
rapid
commercial
growth
anticipated
AAV
market.
It
also
discusses
broader
implications
advancements
future
strategies
targeting
more
complex
multi-systemic
conditions
biological
such
aging.
Finally,
we
explore
some
major
challenges
currently
confronting
Lipid
droplets
(LDs)
are
dynamic
cytoplasmic
lipid-storing
organelles
that
play
a
pivotal
role
in
maintaining
cellular
energy
balance,
lipid
homeostasis,
and
metabolic
signaling.
Dysregulation
of
metabolism,
particularly
excessive
lipogenesis,
contributes
to
the
abnormal
accumulation
LDs
nervous
system,
which
is
associated
with
several
neurodegenerative
diseases.
Circular
RNAs
(circRNAs)
new
class
non-coding
regulatory
widely
expressed
eukaryotes.
However,
only
subset
has
been
functionally
characterized.
Here,
we
identified
characterized
circular
RNA
circbabo(5,6,7,8S)
regulates
lipogenesis
neuronal
integrity
Drosophila
melanogaster.
derived
from
babo
locus
encodes
type
I
receptor
for
transforming
growth
factor
β
(TGF-β).
Depletion
flies
causes
elevated
droplet
accumulation,
progressive
photoreceptor
cell
loss
shortened
lifespan,
phenotypes
rescued
by
restoring
expression.
In
addition,
RNA-seq
epistasis
analyses
reveal
these
abnormalities
caused
aberrant
activation
SREBP
signaling
pathway.
Furthermore,
circbabo(5,6,7,8S)-depleted
tissues
display
enhanced
TGF-β
pathway
compromised
mitochondrial
function,
resulting
upregulation
reactive
oxygen
species
(ROS).
Moreover,
provide
evidence
protein
circbabo(5,6,7,8S)-p,
inhibits
interfering
assembly
babo/put
heterodimer
complex.
Lastly,
show
dysregulation
ROS/JNK/SREBP
cascade
responsible
LD
neurodegeneration,
lifespan
elicited
depletion.
Our
study
demonstrates
physiological
protein-coding
circRNA
regulating
metabolism
integrity.
Neurobiology of Disease,
Год журнала:
2024,
Номер
201, С. 106658 - 106658
Опубликована: Сен. 3, 2024
Thyroid-stimulating
hormone
(TSH)
is
a
pituitary
that
stimulates
the
thyroid
gland
to
produce
and
release
hormones,
primarily
thyroxine
triiodothyronine.
These
hormones
are
key
players
in
body–brain
communication,
influencing
various
physiological
processes,
including
regulation
of
metabolism
(both
peripheral
central
effects),
feedback
mechanisms,
lipid
metabolism.
Recently,
increasing
incidence
abnormal
has
highlighted
link
between
function
Evidence
suggests
TSH
can
affect
all
bodily
systems
through
playing
crucial
role
growth,
development,
systems.
Lipids
serve
dual
purposes:
they
involved
energy
storage
metabolism,
act
as
vital
signaling
molecules
numerous
cellular
activities,
maintaining
overall
human
health
or
contributing
diseases.
This
article
reviews
regulating
via
crosstalk,
focusing
on
its
implications
for
common
disorders
such
obesity,
atherosclerosis,
nonalcoholic
fatty
liver
disease,
neuropsychiatric
(including
Alzheimer's
Parkinson's
multiple
sclerosis,
epilepsy,
depression),
cerebrovascular
stroke.
