The Potential of cfDNA as Biomarker: Opportunities and Challenges for Neurodegenerative Diseases
Journal of Molecular Neuroscience,
Journal Year:
2025,
Volume and Issue:
75(1)
Published: March 13, 2025
Abstract
Neurodegenerative
disorders,
including
Alzheimer’s
disease
(AD),
Parkinson’s
(PD),
multiple
sclerosis
(MS),
and
amyotrophic
lateral
(ALS),
are
characterized
by
the
progressive
gradual
degeneration
of
neurons.
The
prevalence
rates
these
disorders
rise
significantly
with
age.
As
life
spans
continue
to
increase
in
many
countries,
number
cases
is
expected
grow
foreseeable
future.
Early
precise
diagnosis,
along
appropriate
surveillance,
continues
pose
a
challenge.
high
heterogeneity
neurodegenerative
diseases
calls
for
more
accurate
definitive
biomarkers
improve
clinical
therapy.
Cell-free
DNA
(cfDNA),
fragmented
released
into
bodily
fluids
via
apoptosis,
necrosis,
or
active
secretion,
has
emerged
as
promising
non-invasive
diagnostic
tool
various
diseases.
cfDNA
can
serve
an
indicator
ongoing
cellular
damage
mortality,
neuronal
loss,
may
provide
valuable
insights
processes,
progression,
therapeutic
responses.
This
review
will
first
cover
key
aspects
then
examine
recent
advances
its
potential
use
biomarker
disorders.
Language: Английский
Blood-Based Biomarkers in Alzheimer’s Disease: Advancing Non-Invasive Diagnostics and Prognostics
International Journal of Molecular Sciences,
Journal Year:
2024,
Volume and Issue:
25(20), P. 10911 - 10911
Published: Oct. 10, 2024
Alzheimer’s
disease
(AD),
the
most
prevalent
form
of
dementia,
is
expected
to
rise
dramatically
in
incidence
due
global
population
aging.
Traditional
diagnostic
approaches,
such
as
cerebrospinal
fluid
analysis
and
positron
emission
tomography,
are
expensive
invasive,
limiting
their
routine
clinical
use.
Recent
advances
blood-based
biomarkers,
including
amyloid-beta,
phosphorylated
tau,
neurofilament
light,
offer
promising
non-invasive
alternatives
for
early
AD
detection
monitoring.
This
review
synthesizes
current
research
on
these
highlighting
potential
track
pathology
enhance
accuracy.
Furthermore,
this
uniquely
integrates
recent
findings
protein-protein
interaction
networks
microRNA
pathways,
exploring
novel
combinations
proteomic,
genomic,
epigenomic
biomarkers
that
provide
new
insights
into
AD’s
molecular
mechanisms.
Additionally,
we
discuss
integration
with
advanced
neuroimaging
techniques,
emphasizing
revolutionize
diagnostics.
Although
large-scale
validation
still
needed,
represent
a
critical
advancement
toward
more
accessible,
cost-effective,
tools
AD.
Language: Английский
Older US adults’ experiences with and views about cognitive screening and blood biomarker testing for Alzheimer's disease
Chelsea G. Cox,
No information about this author
Matthias Kirch,
No information about this author
Dianne Singer
No information about this author
et al.
Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring,
Journal Year:
2025,
Volume and Issue:
17(1)
Published: Jan. 1, 2025
Language: Английский
Exploring the ability of plasma pTau217, pTau181 and beta-amyloid in mirroring cerebrospinal fluid biomarker profile of Mild Cognitive Impairment by the fully automated Lumipulse® platform
Marcella Catania,
No information about this author
Claudia Battipaglia,
No information about this author
Alberto Perego
No information about this author
et al.
Fluids and Barriers of the CNS,
Journal Year:
2025,
Volume and Issue:
22(1)
Published: Jan. 21, 2025
The
approval
of
new
disease-modifying
therapies
by
the
U.S.
Food
and
Drug
Administration
European
Medicine
Agency
makes
it
necessary
to
optimize
non-invasive
cost-effective
tools
for
identification
subjects
at-risk
developing
Alzheimer's
Disease
(AD).
Plasma
biomarkers
are
excellent
candidates.
However,
their
ability
reflect
cerebrospinal
fluid
(CSF)
profile
-
that
remains
date
gold
standard
biochemical
diagnosis
AD
needs
be
confirmed
validated
before
implementation
in
clinical
practice.
aims
this
study
analyse
correlation
between
CSF
plasma
Aβ40,
Aβ42,
Aβ42/Aβ40
pTau181,
assess
diagnostic
performance
a
cohort
affected
Mild
Cognitive
Impairment
(MCI).
was
performed
on
306
MCI,
enrolled
context
Italian
Interceptor
Project.
Aβ42
pTau181
were
analysed
CSF,
pTau217
measured
plasma.
fully
automated
chemiluminescence
enzyme
immunoassay
Lumipulse®
G600II
(Fujirebio)
instrument
used
all
measurements.
We
correlations
differences
biomarker
concentrations
after
grouping
MCI
cases
according
AT
classification
profiles.
found
statistically
significant
positive
ratio
pTau181.
All
biomarkers,
except
showed
A+
vs.
A-,
A+T+
A-T-
A+T-
patients.
Moreover,
levels
lower
compared
A-T+
groups,
higher
A+T-.
robust
distinguishing
from
A-
(AUC
=
0.857
0.862,
respectively)
0.866
0.911)
subjects.
Our
results
suggest
especially
pTau217,
promising
candidates
early
detection
pathology.
Language: Английский
Detecting mild cognitive impairment by applying integrated random forest to finger tapping
Medical & Biological Engineering & Computing,
Journal Year:
2025,
Volume and Issue:
unknown
Published: Feb. 1, 2025
Language: Английский
Exploring cognitive and neuroimaging profiles of dementia subtypes of individuals with dementia in the Democratic Republic of Congo
Frontiers in Aging Neuroscience,
Journal Year:
2025,
Volume and Issue:
17
Published: Feb. 12, 2025
Objective
The
2024
Alzheimer’s
Association
(AA)
research
diagnostic
criteria
for
Disease
(AD)
considers
fluid
biomarkers,
including
promising
blood-based
biomarkers
detecting
AD.
This
study
aims
to
identify
dementia
subtypes
and
their
cognitive
neuroimaging
profiles
in
older
adults
with
the
Democratic
Republic
of
Congo
(DRC)
using
clinical
data.
Methods
Forty-five
individuals
over
65
years
old
were
evaluated
Community
Screening
Instrument
Dementia
informant-based
Questionnaire.
Core
AD
(Aβ42/40
p-tau181)
non-specific
neurodegeneration
(NfL,
GFAP)
measured
blood
plasma.
Neuroimaging
structures
assessed
magnetic
resonance
imaging
(MRI).
determined
based
on
plasma
biomarker
pathology
vascular
markers.
Biomarker
cutoff
scores
identified
optimize
sensitivity
specificity.
Individuals
stratified
into
one
four
subtypes—AD
only,
non-AD
vascular,
other,
or
mixed
–
combinations
abnormalities
these
Results
Among
45
dementia,
had
highest
prevalence
(42.4%),
followed
by
AD-only
(24.4%),
other
(22.2%),
(11.1%).
Both
aligned
poorly
classifications
full
sample.
Cognitive
tests
varied
across
subtypes.
profile
groups
suggested
relatively
low
performance,
while
best
average.
Conclusion
Consistent
studies
settings,
our
preliminary
findings
suggest
that
neurodegenerative
may
help
provide
insight
among
DRC.
Language: Английский
Longitudinal Evaluation of the Detection Potential of Serum Oligoelements Cu, Se and Zn for the Diagnosis of Alzheimer’s Disease in the 3xTg-AD Animal Model
International Journal of Molecular Sciences,
Journal Year:
2025,
Volume and Issue:
26(8), P. 3657 - 3657
Published: April 12, 2025
Alzheimer’s
disease
(AD)
is
a
progressive
neurodegenerative
disorder
characterized
by
the
accumulation
of
β-amyloid
(Aβ)
and
hyperphosphorylated
tau,
leading
to
neuroinflammation,
oxidative
stress,
neuronal
death.
Early
detection
AD
remains
challenge,
as
clinical
manifestations
only
emerge
in
advanced
stages,
limiting
therapeutic
interventions.
Minimally
invasive
biomarkers
are
essential
for
early
identification
monitoring
progression.
This
study
aims
evaluate
sensitivity
relationship
between
serum
oligoelement
levels
progression
3xTg-AD
model.
Transgenic
mice
C57BL/6
controls
were
evaluated
over
12
months
through
quantification
using
inductively
coupled
plasma
mass
spectrometry
(ICP-MS),
Aβ
deposition
via
immunohistochemistry,
cognitive
assessments
memory
tests
(Morris
water
maze
novel
object
recognition
test),
well
spontaneous
locomotion
analysis
open
field
test.
The
results
demonstrated
that
oligoelements
(copper,
zinc,
selenium)
sensitive
detecting
alterations
group,
preceding
motor
deficits.
Immunohistochemistry
was
performed
qualitative
purposes,
confirming
presence
CNS
transgenic
animals.
Up
third
month,
labeling
moderate
restricted
cell
bodies;
from
fifth
month
onward,
evident
extracellular
deposits
emerged.
Behavioral
assessment
indicated
impairments
spatial
episodic
memory,
altered
locomotor
patterns
mice.
These
findings
reinforce
variations
may
be
associated
with
processes,
including
stress
synaptic
dysfunction.
Thus,
emerges
promising
approach
diagnosis
progression,
potentially
contributing
development
new
strategies.
Language: Английский
TOMM40 may mediate GFAP, neurofilament light Protein, pTau181, and brain morphometry in aging
Aging Brain,
Journal Year:
2024,
Volume and Issue:
7, P. 100134 - 100134
Published: Dec. 13, 2024
Language: Английский
Exploring Cognitive and Neuroimaging Profiles of Dementia Subtypes of Individuals with Dementia in the Democratic Republic of Congo
medRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: Dec. 18, 2024
ABSTRACT
Objective
The
2024
Alzheimer’s
Association
(AA)
research
diagnostic
criteria
for
Disease
(AD)
considers
fluid
biomarkers,
including
promising
blood-based
biomarkers
detecting
AD.
This
study
aims
to
identify
dementia
subtypes
and
their
cognitive
neuroimaging
profiles
in
older
adults
with
the
Democratic
Republic
of
Congo
(DRC)
using
clinical
data.
Methods
Forty-five
individuals
over
65
years
old
were
evaluated
Community
Screening
Instrument
Dementia
informant-based
Questionnaire.
Core
AD
(Aβ42/40
p-tau181)
non-specific
neurodegeneration
(NfL,
GFAP)
measured
blood
plasma.
Neuroimaging
structures
assessed
magnetic
resonance
imaging
(MRI).
determined
based
on
plasma
biomarker
pathology
vascular
markers.
Biomarker
cutoff
scores
identified
optimize
sensitivity
specificity.
Individuals
stratified
into
one
four
–
only,
non-AD
vascular,
other,
or
mixed
combinations
abnormalities
these
Results
Among
45
dementia,
had
highest
prevalence
(42.4%),
followed
by
AD-only
(24.4%),
other
(22.2%),
(11.1%).
Both
aligned
poorly
classifications
full
sample.
Cognitive
tests
varied
across
subtypes.
profile
groups
suggested
relatively
low
performance,
while
best
average.
Conclusion
Consistent
studies
settings,
our
preliminary
findings
suggest
that
neurodegenerative
may
help
provide
insight
among
DRC.
Language: Английский