Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review
Biology,
Год журнала:
2025,
Номер
14(2), С. 129 - 129
Опубликована: Янв. 26, 2025
Neurodegenerative
disorders
(NDs)
cause
progressive
neuronal
loss
and
are
a
significant
public
health
concern,
with
NDs
projected
to
become
the
second
leading
global
of
death
within
two
decades.
Huntington’s
disease
(HD)
is
rare,
ND
caused
by
an
autosomal-dominant
mutation
in
huntingtin
(HTT)
gene,
severe
brain
resulting
debilitating
motor,
cognitive,
psychiatric
symptoms.
Given
complex
pathology
HD,
biomarkers
essential
for
performing
early
diagnosis,
monitoring
progression,
evaluating
treatment
efficacy.
However,
identification
consistent
HD
challenging
due
prolonged
premanifest
stage,
HD’s
heterogeneous
presentation,
its
multiple
underlying
biological
pathways.
This
study
involves
10-year
bibliometric
analysis
biomarker
research,
revealing
key
research
trends
gaps.
The
also
features
comprehensive
literature
review
emerging
biomarkers,
concluding
need
better
stratification
patients
well-designed
longitudinal
studies
validate
biomarkers.
Promising
candidate
wet
biomarkers—
including
neurofilament
light
chain
protein
(NfL),
microRNAs,
mutant
HTT
protein,
specific
metabolic
inflammatory
markers—
discussed,
emphasis
on
their
potential
utility
stage.
Additionally,
reflecting
structural
deficits
motor
or
behavioral
impairments,
such
as
neurophysiological
(e.g.,
tapping,
speech,
EEG,
event-related
potentials)
imaging
MRI,
PET,
diffusion
tensor
imaging)
evaluated.
findings
underscore
that
discovery
validation
reliable
urgently
require
improved
patient
studies.
Reliable
particularly
crucial
optimizing
clinical
management
strategies,
enabling
personalized
approaches,
advancing
trials
HD-modifying
therapies.
Язык: Английский
Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders
International Journal of Molecular Sciences,
Год журнала:
2025,
Номер
26(6), С. 2655 - 2655
Опубликована: Март 15, 2025
Fragile
X-related
disorders
(FXDs)
are
caused
by
the
expansion
of
a
CGG
repeat
tract
in
5’-UTR
FMR1
gene.
The
mechanism
is
likely
shared
with
45+
other
human
diseases
resulting
from
expansion,
process
that
has
been
shown
to
require
key
mismatch
repair
(MMR)
factors.
FANCJ,
DNA
helicase
involved
unwinding
unusual
secondary
structures,
implicated
number
processes
including
MMR.
To
test
role
FANCJ
we
crossed
FancJ-null
mice
an
FXD
mouse
model.
We
found
loss
resulted
trend
towards
more
extensive
was
significant
for
small
intestine
and
male
germline.
This
finding
interesting
implications
raises
possibility
helicases
may
be
important
modifiers
risk
certain
cell
types.
Язык: Английский