DECODING THE UMOD GENE: IMPLICATIONS FOR CHRONIC KIDNEY DISEASE THROUGH GENETIC MECHANISMS, DIAGNOSTICS, AND THERAPEUTIC INNOVATIONS
Medical science of Uzbekistan,
Год журнала:
2025,
Номер
1, С. 17 - 21
Опубликована: Фев. 25, 2025
This
review
examines
recent
advances
in
the
study
of
UMOD
genetic
variations,
their
functional
consequences,
and
impact
on
CKD
pathogenesis.
It
also
discusses
potential
clinical
applications
as
a
predictive
biomarker
for
early
detection,
risk
stratification,
targeted
interventions.
The
development
transcriptomic,
proteomic,
metabolomic
approaches
allows
more
comprehensive
function
its
interactions
with
other
metabolic
pathways.
Chronic
kidney
disease
(CKD)
is
growing
global
health
concern,
affecting
millions
people
worldwide.
Genetic
factors
play
crucial
role
etiology
progression
CKD,
influencing
susceptibility,
severity,
treatment
response.
Among
these
factors,
gene,
which
encodes
glycoprotein
uromodulin,
recognized
key
regulator
function,
tubular
integrity,
susceptibility.
polymorphisms
affect
by
altering
sodium
transport,
modulating
immune
responses,
regulating
oxidative
stress,
thereby
contributing
to
hypertension,
nephron
damage,
progression.
Recent
GWAS
(genome-wide
association
studies)
have
confirmed
between
an
increased
related
complications.
Additionally,
significant
correlation
has
been
identified
hyperuricemia,
uromodulin
plays
uric
acid
transport
excretion.
Conclusion:
Personalized
medicine
based
genotyping
opens
new
opportunities
individualized
assessment,
tailored
pharmacotherapy,
lifestyle
modifications
slow
promising
therapeutic
strategies
are
being
developed,
including
pharmacological
modulation
expression
gene
therapy.The
integration
knowledge
highlights
significance
pathogenesis
positions
it
target
precision
nephrology,
potentially
improving
outcomes
optimizing
patient
management
strategies.
Язык: Английский
Renal Implications of Dysregulated Protein Homeostasis: Insights into Ubiquitin–Proteasome and Autophagy Systems
Biomolecules,
Год журнала:
2025,
Номер
15(3), С. 349 - 349
Опубликована: Фев. 28, 2025
The
ubiquitin–proteasome
system
(UPS)
and
autophagy
maintain
protein
homeostasis,
which
is
critical
to
cellular
function
survival.
dysregulation
of
these
pathways
has
been
recognized
as
a
hallmark
acute
kidney
injury
chronic
disease.
This
review
elucidates
the
role
UPS
in
disease,
namely
through
inflammation,
oxidative
stress,
fibrosis
apoptosis.
NF-κB,
TGF-β
mitochondrial
failure
result
glomerular
tubulointerstitial
due
impaired
proteostasis
podocytes
tubular
epithelial
cells.
Recent
studies
have
revealed
connection
between
autophagic
process
UPS,
wherein
compensatory
mechanisms
aim
spike
down
proteotoxic
stress
but
eventually
seem
inadequate
cases
derangement.
Low-dose
pharmacological
inhibitors,
modulators,
new
gene
nanotechnology-based
treatments
may
all
help
restore
balance
reduce
injury.
A
more
thorough
understanding
needed
develop
kidney-protective
disease-modifying
therapeutic
interventions.
Язык: Английский