An RB1CC1 Missense Variant in Nova Scotia Duck Tolling Retrievers with Degenerative Encephalopathy
Juyuan Guo,
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Garrett Bullock,
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Dennis P. O’Brien
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et al.
Genes,
Journal Year:
2025,
Volume and Issue:
16(3), P. 269 - 269
Published: Feb. 25, 2025
Background/Objectives:
A
slowly
progressive
hereditary
neurological
disorder
classified
as
degenerative
encephalopathy
(DE)
occurs
in
Nova
Scotia
Duck
Tolling
Retrievers.
The
disease
is
characterized
by
frequent
episodes
of
pronounced
involuntary
movements
during
sleep,
cognitive
impairment,
anxiety,
heightened
sensitivity
to
sensory
stimuli,
and
compulsive
behaviors.
clinical
signs
are
accompanied
the
degeneration
several
brain
regions.
study
was
undertaken
identify
molecular
genetic
basis
this
disorder.
Methods:
Whole
genome
sequences
(WGSs)
from
DNA
affected
unaffected
Retrievers
were
aligned
Dog10K_Boxer_Tasha
reference
assembly
WGSs
334
additional
control
dogs
generated
laboratory.
Results:
missense
C>T
variant
identified
RB1CC1
exon
22
chromosome
29:4891014
that
uniquely
homozygous
dog.
This
predicts
a
p.G1503R
change
amino
acid
sequence
RB1CC1.
Genotyping
2950
at
locus
found
complete
concordance
between
phenotype
genotype.
Conclusions:
RBCC1
an
essential
component
protein
complex
mediates
initiation
autophagosome
formation.
Therefore,
it
appears
likely
results,
least
part,
impaired
autophagy.
Consistent
with
possibility,
neurons
dog
contain
abnormal
lysosomal
storage
body-like
inclusions.
could
serve
valuable
model
elucidate
mechanisms
underlying
human
diseases
associated
Identification
disease-causing
will
enable
owners
screen
their
for
risk
variant.
Language: Английский
Explore autophagy-related lncRNA-miRNA-mRNA ceRNA networks for diagnosis of early-onset schizophrenia through transcriptome analysis
Wei Hu,
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Xinzhe Du,
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Xinxia Wang
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et al.
Frontiers in Psychiatry,
Journal Year:
2025,
Volume and Issue:
16
Published: Feb. 26, 2025
The
severe
functional
impairment
and
poor
prognosis
of
early-onset
schizophrenia
(EOS)
create
a
great
need
to
identify
effective
biomarkers
for
early
diagnosis
in
young
psychiatric
patients.
Current
research
indicates
potential
link
between
loss
autophagy
function
emotional
behavioral
abnormalities
individuals
with
disorders.
This
study
aimed
explore
diagnostic
autophagy-related
endogenous
competitive
RNA
(ceRNA)
networks
EOS
messenger
RNAs
(mRNAs)
long
non-coding
(lncRNAs)
expression
profiles
were
obtained
from
peripheral
blood
mononuclear
cells
18
patients
12
healthy
controls
(HC).
A
co-expression
analysis
was
performed
365
core
lncRNAs
55
differentially
expressed
genes
(ARGs)
lncRNAs.
Subsequently,
five
identified
as
candidate
construct
ceRNA
regulatory
network
using
least
absolute
shrinkage
selection
operator
(LASSO)
Cox
regression,
receiver
operating
characteristic
(ROC)
curve
evaluate
their
predictive
accuracy.
Then,
putative
interactions
among
lncRNA-microRNAs
(miRNAs)-mRNA
determined
based
on
the
lncRNASNP2
TarBase
databases.
Three
lncRNAs,
twenty
miRNAs,
ten
mRNAs
selected
an
autophagy-associated
associated
occurrence.
Through
protein-protein
interaction
analysis,
hub
identified,
which
exhibited
good
ability
distinguishing
individuals.
ROC
demonstrated
that
integrating
three
(RP1-135L22.1,
RP5-884C9.2,
RP11-390F4.3)
along
(EIF4G1,
AKT1,
BAX,
WIPI2,
MAPT)
appeared
yield
better
accuracy
compared
either
or
alone.
Furthermore,
all
positively
correlated
at
two
types
immune
infiltration.
transcriptome
we
searched
networks,
provided
valuable
candidates
EOS.
Language: Английский