Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model
Clinical Genetics,
Год журнала:
2025,
Номер
unknown
Опубликована: Апрель 10, 2025
ABSTRACT
Infantile
Cerebellar‐Retinal
Degeneration
(ICRD)
is
an
autosomal
recessive
neuro‐disability
associated
with
hypotonia,
seizures,
optic
atrophy,
and
retinal
degeneration.
Recessive
variants
of
the
mitochondrial
aconitase
gene
(
ACO2
)
are
a
known
cause
ICRD.
Here,
we
present
paediatric
male
patient
ICRD,
where
whole
genome
sequencing
family
trio
revealed
segregating
heterozygous
unknown
significance
in
.
At
4
months,
he
displayed
generalised
by
6
years,
visual
electrophysiology
indicated
bilateral
atrophy.
Magnetic
Resonance
Imaging
(MRI)
at
age
seven
confirmed
nerve
cerebellar
together
symptoms
developmental
delay,
align
We
established
Drosophila
animal
model
to
explore
impact
loss‐
gain‐of‐function.
Manipulating
fly
ortholog,
mAcon1
,
through
pan‐neuronal
knock‐down
or
over‐expression
negatively
affected
longevity,
locomotion,
activity,
whilst
disrupting
sleep
circadian
rhythms.
Mis‐expression
eye
led
impaired
synaptic
transmission
neurodegeneration.
These
experiments
mirrored
certain
aspects
human
disease,
providing
foundation
for
understanding
its
biological
processes
pathogenic
mechanisms,
offering
insights
into
potential
targets
screen
future
treatments
preventive
measures
‐related
Язык: Английский
Generation of cellular reactive oxygen and nitrogen species by exposure to ultraviolet radiation
Biophysical Reviews,
Год журнала:
2025,
Номер
unknown
Опубликована: Март 14, 2025
Язык: Английский
Yeast Hsp78 plays an essential role in adapting to severe ethanol stress via mild ethanol stress pretreatment in mitochondrial protein quality control
Fuko Horie,
Ryoko Ando,
K. Sekimoto
и другие.
Biochimica et Biophysica Acta (BBA) - General Subjects,
Год журнала:
2025,
Номер
unknown, С. 130804 - 130804
Опубликована: Апрель 1, 2025
Язык: Английский
The Key Enzymes of Carbon Metabolism and the Glutathione Antioxidant System Protect Yarrowia lipolytica Yeast Against pH-Induced Stress
Journal of Fungi,
Год журнала:
2024,
Номер
10(11), С. 747 - 747
Опубликована: Окт. 29, 2024
In
this
study,
we
first
thoroughly
assayed
the
response
of
key
enzymes
energy
metabolism
and
antioxidant
system
in
Язык: Английский
Role of Quercetin in Diabetic Cardiomyopathy
Plants,
Год журнала:
2024,
Номер
14(1), С. 25 - 25
Опубликована: Дек. 25, 2024
Diabetic
cardiomyopathy
is
a
significant
and
severe
complication
of
diabetes
that
affects
large
portion
the
global
population,
with
its
prevalence
continuing
to
rise.
Secondary
metabolites,
including
quercetin,
have
shown
promising
effects
in
mitigating
progression
diabetic
by
targeting
multiple
pathological
mechanisms,
impaired
insulin
signaling,
glucotoxicity,
lipotoxicity,
oxidative
stress,
inflammation,
fibrosis,
apoptosis,
autophagy,
mitochondrial
dysfunction,
cardiac
stiffness,
disrupted
calcium
handling.
Addressing
these
mechanisms
crucial
prevent
left
ventricular
diastolic
systolic
dysfunction
advanced
stages
heart
disease.
Scientific
evidence
has
highlighted
cardioprotective
properties
quercetin
at
both
myocardial
cellular/molecular
levels
models.
Therefore,
this
review
aims
present
comprehensive
overview
proposed
underlying
quercetin’s
beneficial
effects,
providing
valuable
insights
could
inform
future
drug
discovery
efforts
specific
cardiomyopathy.
Язык: Английский