Genomic and Transcriptomic Approaches Advance the Diagnosis and Prognosis of Neurodegenerative Diseases
Genes,
Год журнала:
2025,
Номер
16(2), С. 135 - 135
Опубликована: Янв. 24, 2025
Neurodegenerative
diseases,
such
as
Alzheimer’s
disease
(AD),
Parkinson’s
(PD),
Huntington’s
(HD),
and
amyotrophic
lateral
sclerosis
(ALS),
represent
a
growing
societal
challenge
due
to
their
irreversible
progression
significant
impact
on
patients,
caregivers,
healthcare
systems.
Despite
advances
in
clinical
imaging-based
diagnostics,
these
diseases
are
often
detected
at
advanced
stages,
limiting
the
effectiveness
of
therapeutic
interventions.
Recent
breakthroughs
genomic
transcriptomic
technologies,
including
whole-genome
sequencing,
single-cell
RNA
sequencing
(scRNA-seq),
CRISPR-based
screens,
have
revolutionized
field,
offering
new
avenues
for
early
diagnosis
personalized
prognosis.
Genomic
approaches
elucidated
disease-specific
genetic
risk
factors
molecular
pathways,
while
studies
identified
stage-specific
biomarkers
that
correlate
with
severity.
Furthermore,
genome-wide
association
(GWAS),
polygenic
scores
(PRS),
spatial
transcriptomics
enabling
stratification
patients
based
profiles
prognostic
trajectories.
Advances
functional
genomics
uncovered
actionable
targets,
ATXN2
ALS
TREM2
AD,
paving
way
tailored
strategies.
achievements,
challenges
remain
translating
discoveries
into
practice
heterogeneity
complexity
neurodegenerative
pathophysiology.
Future
integration
technologies
holds
promise
transforming
diagnostic
paradigms,
hope
improved
patient
outcomes
precision
medicine
approaches.
Язык: Английский
Micronuclei formation: small nuclear packages with big genomic consequences
The Nucleus,
Год журнала:
2025,
Номер
unknown
Опубликована: Фев. 20, 2025
Язык: Английский
FTO inhibition mitigates high-fat diet-induced metabolic disturbances and cognitive decline in SAMP8 mice
Molecular Medicine,
Год журнала:
2025,
Номер
31(1)
Опубликована: Фев. 21, 2025
Abstract
This
study
investigated
the
effects
of
fat
mass
and
obesity-associated
(FTO)
inhibition
on
cognitive
function
metabolic
parameters
senescence-accelerated
mouse
prone
8
(SAMP8)
mice
fed
a
high-fat
diet
(HFD).
SAMP8
an
HFD
exhibited
increased
body
weight,
impaired
glucose
tolerance,
elevated
serum
leptin
levels.
In
epididymal
white
adipose
tissue
(eWAT),
pharmacological
treatment
with
FB23,
well-established
FTO
inhibitor,
production
modulated
genes
involved
in
lipid
metabolism
(Cpt1a,
Atgl
,
Hsl
Fas)
oxidative
stress
(OS)
(
Bip
Edem
),
inflammation
(Mcp1,
Tnfα)
.
Expression
hepatic
related
to
Mgl,
Dgat2,
Srebp
Plin2)
OS
(catalase,
Edem)
were
by
although
steatosis
remained
unchanged.
Remarkably,
FB23
m6A
RNA
methylation
brain,
accompanied
changes
N6-methyladenosine
(m6A)-regulatory
enzymes
modulation
neuroinflammatory
markers
(Il6,
Mcp1,
iNOS)
reduced
activity
matrix
metalloproteases
(Mmp2,
Mmp9)
altered
IGF1
signaling
(Igf1,
Pten)
Notably,
enhanced
was
observed
through
expression
immediate
early
(Arc,
Fos)
transcription
factor
Stat3
Improved
synaptic
plasticity
evident,
as
shown
levels
neurotrophic
factors
(Bdnf
Ngf)
restored
neurite
length
spine
density.
Consistent
these
findings,
behavioral
tests
demonstrated
that
effectively
rescued
impairments
mice.
The
novel
object
recognition
test
(NORT)
location
(OLT)
revealed
treated
short-
long-term
memory
spatial
compared
control
group.
Additionally,
open
field
showed
reduction
anxiety-like
behavior
after
FB23.
conclusion,
ameliorated
HFD-induced
disturbances
decline
These
results
suggest
targeting
may
be
promising
therapeutic
approach
counteract
obesity-induced
impairment
age-related
neurodegeneration.
Язык: Английский
Brain 5-hydroxymethylcytosine alterations are associated with Alzheimer’s disease neuropathology
Nature Communications,
Год журнала:
2025,
Номер
16(1)
Опубликована: Март 22, 2025
5-hydroxymethylcytosine,
also
known
as
the
sixth
DNA
base
of
genome,
plays
an
important
role
in
brain
aging
and
neurological
disorders
such
Alzheimer's
disease.
However,
little
is
about
its
genome-wide
distribution
association
with
disease
pathology.
Here,
we
report
a
profiling
5-hydroxymethylcytosine
1079
autopsied
brains
(dorsolateral
prefrontal
cortex)
older
individuals
assess
multiple
measures
pathologies,
including
pathological
diagnosis
disease,
amyloid-β
load,
PHFtau
tangle
density.
Of
197,765
regions
detected,
identified
2821
differentially
hydroxymethylated
associated
neuropathology
after
controlling
for
testing
covariates.
Many
are
located
within
loci,
RIN3,
PLCG2,
ITGA2B,
USP6NL.
Integrative
multi-omics
analyses
support
potential
mechanistic
alterations
Our
study
presents
large-scale
atlas
offers
insight
into
mechanism
underlying
pathogenesis.
base,
key
authors
over
1000
deceased
to
identify
genes
linked
Язык: Английский
Epigenetic Biomarkers in Alzheimer's Disease: Diagnostic and Prognostic Relevance
Ageing Research Reviews,
Год журнала:
2024,
Номер
102, С. 102556 - 102556
Опубликована: Окт. 30, 2024
Язык: Английский
Biomarkers of cognitive and memory decline in psychotropic drug users
Journal of Neural Transmission,
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 8, 2024
Abstract
Psychotropic
drugs
are
vital
in
psychiatry,
aiding
the
management
of
mental
health
disorders.
Their
use
requires
an
understanding
their
pharmacological
properties,
therapeutic
applications,
and
potential
side
effects.
Ongoing
research
aims
to
improve
efficacy
safety.
Biomarkers
play
a
crucial
role
predicting
memory
decline
psychotropic
drug
users.
A
comprehensive
biomarkers,
including
neuroimaging,
biochemical,
genetic,
cognitive
assessments,
is
essential
for
developing
targeted
interventions
preventive
strategies.
In
this
narrative
review,
we
performed
search
on
PubMed
Google
using
review-specific
terms.
Clinicians
should
multifaceted
approach,
neurotransmitter
analysis,
neurotrophic
factors,
miRNA
profiling,
tasks
early
intervention
personalized
treatment.
Anxiolytics'
mechanisms
involve
various
systems
emerging
targets.
Research
biomarkers
anxiolytic
users
can
lead
detection
intervention,
enhancing
clinical
practices
aligning
with
precision
medicine.
Mood
stabilizer
benefit
from
through
RNA,
neurophysiological,
inflammatory
promoting
timely
interventions.
Performance-enhancing
may
boost
athletic
performance
short
term,
but
long-term
risks
ethical
issues
make
problematic.
Long-term
enhancers
athletes
shows
changes
decline,
necessitating
ongoing
monitoring
Understanding
these
genetic
influences
helps
pave
way
approaches
prevent
or
mitigate
deterioration,
emphasizing
importance
screening
based
individual's
profile.
Future
focus
refining
protective
measures
against
deterioration.
Overall,
Язык: Английский