The Journal of Cell Biology,
Journal Year:
2023,
Volume and Issue:
222(10)
Published: July 18, 2023
Serving
as
the
power
plant
and
signaling
hub
of
a
cell,
mitochondria
contain
their
own
genome
which
encodes
proteins
essential
for
energy
metabolism
forms
DNA-protein
assemblies
called
nucleoids.
Mitochondrial
DNA
(mtDNA)
exists
in
multiple
copies
within
each
cell
ranging
from
hundreds
to
tens
thousands.
Maintaining
mtDNA
homeostasis
is
vital
healthy
cells,
its
dysregulation
causes
human
diseases.
However,
players
involved
regulating
maintenance
are
largely
unknown
though
core
components
replication
machinery
have
been
characterized.
Here,
we
identify
C17orf80,
functionally
uncharacterized
protein,
critical
player
maintaining
homeostasis.
C17orf80
primarily
localizes
mitochondrial
nucleoid
foci
exhibits
robust
double-stranded
binding
activity
throughout
genome,
thus
constituting
bona
fide
new
protein.
It
controls
levels
by
promoting
plays
important
roles
proliferation.
Our
findings
provide
potential
target
therapeutics
diseases
associated
with
defective
control.
International Journal of Cancer,
Journal Year:
2023,
Volume and Issue:
154(8), P. 1504 - 1513
Published: Dec. 27, 2023
Abstract
Mitochondrial
DNA
plays
a
critical
role
in
the
pathophysiology
of
cancer.
However,
associations
between
mitochondrial
copy
number
(mtDNA‐CN)
and
cancer
risk
are
controversial.
Mendelian
randomization
(MR)
analyses
were
performed
using
three
independent
instrumental
variables
(IVs)
to
explore
potential
mtDNA‐CN
20
types
The
sets
IVs
primarily
obtained
from
participants
UK
Biobank
Cohorts
for
Heart
Aging
Research
Genomic
Epidemiology
consortium
different
methods.
outcome
data
cancers
investigated
summary
statistics
FinnGen
cohort.
causal
evaluated
MR‐Egger
regression,
weighted
median,
inverse‐variance
(IVW),
mode
robustness
IVW
estimates
was
validated
leave‐one‐out
sensitivity
analysis.
Additionally,
meta‐analysis
conducted
pool
results
IVs.
revealed
that
genetically
predicted
not
associated
with
(odds
ratio
=
1.02;
95%
confidence
interval:
0.95–1.10).
Subgroup
indicated
no
association
breast,
lung,
prostate,
skin,
colorectal,
gastric,
liver,
cervical
uteri,
esophageal,
thyroid,
bladder,
pancreas,
kidney,
corpus
ovary,
brain,
larynx,
anus
cancers.
It
observed
lip,
oral
cavity,
testis
these
should
be
interpreted
caution
because
small
patients
lip
cavity
or
included.
comprehensive
MR
analysis
demonstrated
is
suitable
biomarker
tumor
assessment.
Renal Failure,
Journal Year:
2024,
Volume and Issue:
46(2)
Published: Aug. 27, 2024
Acute
kidney
injury
(AKI)
is
a
systemic
clinical
syndrome
increasing
morbidity
and
mortality
worldwide
in
recent
years.
Renal
tubular
epithelial
cells
(TECs)
death
caused
by
mitochondrial
dysfunction
one
of
the
pathogeneses.
The
imbalance
quality
control
main
cause
dysfunction.
Mitochondrial
plays
crucial
role
AKI.
mechanisms
are
involved
regulating
integrity
function,
including
antioxidant
defense,
control,
DNA
(mtDNA)
repair,
dynamics,
mitophagy,
biogenesis.
Currently,
many
studies
have
used
as
targeted
therapeutic
strategy
for
Therefore,
this
review
aims
to
present
latest
research
advancements
on
AKI,
providing
valuable
reference
theoretical
foundation
prevention
treatment
condition,
ultimately
enhancing
patient
prognosis.
IET Systems Biology,
Journal Year:
2025,
Volume and Issue:
19(1)
Published: Jan. 1, 2025
ABSTRACT
Mitochondrial
dynamics
(MD)
play
a
crucial
role
in
the
genesis
of
Alzheimer's
disease
(AD);
however,
molecular
mechanisms
underlying
MD
dysregulation
AD
remain
unclear.
This
study
aimed
to
identify
critical
molecules
that
contribute
progression
using
GEO
data
and
bioinformatics
approaches.
The
GSE63061
dataset
comparing
patients
with
healthy
controls
was
analysed,
WGCNA
employed
co‐expression
modules
differentially
expressed
genes
(DEGs)
LASSO
model
developed
verified
DEGs
screen
for
potential
biomarkers.
A
PPI
network
built
predict
upstream
miRNAs,
which
were
experimentally
validated
luciferase
reporter
assays.
total
3518
identified
(2209
upregulated,
1309
downregulated;
|log
2
FC|
>
1.5,
adjusted
p
<
0.05).
revealed
160
MD‐related
genes.
regression
selected
HIBCH
MGME1
as
novel
biomarkers
significant
downregulation
(fold
change
2,
0.001).
KEGG
enrichment
analysis
highlighted
pathways
associated
neurodegeneration.
Luciferase
assays
confirmed
direct
binding
miR‐922
3′UTR
MGME1.
are
promising
diagnostic
AUC
values
0.73
0.74.
Mechanistically,
directly
bind
3′UTR.
Brain Communications,
Journal Year:
2024,
Volume and Issue:
6(3)
Published: Jan. 1, 2024
Abstract
Autosomal
recessive
pathogenetic
variants
in
the
DGUOK
gene
cause
deficiency
of
deoxyguanosine
kinase
activity
and
mitochondrial
deoxynucleotides
pool
imbalance,
consequently,
leading
to
quantitative
and/or
qualitative
impairment
DNA
synthesis.
Typically,
patients
present
early-onset
liver
failure
with
or
without
neurological
involvement
a
clinical
course
rapidly
progressing
death.
This
is
an
international
multicentre
study
aiming
provide
retrospective
natural
history
deficient
patients.
A
systematic
literature
review
from
January
2001
June
2023
was
conducted.
Physicians
research
centres
clinicians
all
around
world
caring
for
previously
reported
were
contacted
followup
information
additional
clinical,
biochemical,
histological/histochemical,
molecular
genetics
data
unreported
cases
confirmed
diagnosis
deficiency.
cohort
202
genetically
patients,
36
unreported,
166
review,
analyzed.
Patients
had
neonatal
onset
(≤
1
month)
55.7%
cases,
infantile
(>1
month
≤
year)
32.3%,
pediatric
year
≤18
years)
2.5%
adult
(>18
9.5%.
Kaplan-Meier
analysis
showed
statistically
different
survival
rates
(P
<
0.0001)
among
four
age
groups
highest
mortality
onset.
Based
on
phenotype,
we
defined
subtypes:
hepatocerebral
(58.8%),
isolated
hepatopathy
(21.9%),
hepatomyoencephalopathy
(9.6%),
myopathy
(9.6%).
Muscle
predominant
adult-onset
whereas
dysfunction
causes
morbidity
median
less
than
year.
No
genotype–phenotype
correlation
identified.
Liver
transplant
significantly
modified
rate
26
treated
when
compared
untreated.
Only
six
mild
signs
after
transplant.
In
conclusion,
disease
spectrum
prevalent
brain
tissue
specificity
infantile-onset
muscle
cases.
Our
provides
biochemical
early
diagnosis,
trial
planning
immediate
intervention
nucleoside
supplementation.
Scientific Reports,
Journal Year:
2023,
Volume and Issue:
13(1)
Published: Nov. 29, 2023
Abstract
Mitochondrial
DNA
plays
a
critical
role
in
the
pathophysiological
process
of
inflammation.
However,
relationship
between
mitochondrial
copy
number
(mtDNA-CN)
and
inflammatory
bowel
diseases
(IBD)
remains
poorly
understood.
We
conducted
comprehensive
Mendelian
randomization
(MR)
using
three
instrumental
variables
(IVs)
to
explore
causal
associations
mtDNA-CN
IBD,
including
Crohn's
disease
(CD),
ulcerative
colitis
(UC).
MR-Egger
regression,
weighted
median,
inverse-variance
(IVW),
mode
methods
were
used
evaluate
potential
associations.
The
robustness
IVW
estimates
was
determined
leave-one-out
sensitivity
test.
A
meta-analysis
pool
results
from
sets
IVs.
Upon
analysis,
findings
current
study
revealed
that
genetically
predicted
not
associated
with
IBD
(CD
+
UC)
UC.
MR
analyses
CD
risk
inconsistent
by
After
meta-analysis,
we
found
(odds
ratio
=
2.09;
95%
confidence
interval:
1.37–3.18).
This
finding
also
confirmed
multivariable
remained
robust
when
tested
In
conclusion,
be
risk.
Therefore,
mtDNA
levels
blood
could
potentially
as
marker
for
assessment.
Further
studies
are
needed
elucidate
underlying
mechanisms
validate
this
study.
Translational Cancer Research,
Journal Year:
2024,
Volume and Issue:
13(7), P. 3338 - 3353
Published: July 1, 2024
Background:
Mitochondria
are
the
center
of
cellular
metabolism.
The
relationship
between
mitochondria
and
diseases
has
also
been
studied
for
a
long
time.
However,
prognostic
role
mitochondrial-related
genes
(MRGs)
in
patients
with
glioma
their
biological
effects
still
unclear.
aim
study
was
to
construct
mitochondria-related
model
assess
prognosis
potential
like
immune
infiltration,
gene
pathway
mutation,
give
some
predictive
chemotherapeutic
agents.
