Annals of Clinical and Translational Neurology,
Journal Year:
2025,
Volume and Issue:
unknown
Published: May 2, 2025
ABSTRACT
MRPS14
(uS14m)
is
a
nuclear‐encoded
ribosomal
protein
important
for
mitochondria‐specific
translation.
To
date,
only
single
individual
with
recessive
‐related
disorder
(also
known
as
COXPD38)
has
been
reported.
We
report
an
additional
subject
possessing
novel
compound
heterozygous
variants
(p.Asp37Asn,
p.Asn60Asp).
The
presented
at
2
years
motor
and
language
delays
associated
elevated
serum
lactate/alanine
levels.
Brain
MRI
showed
constellation
of
signal
abnormalities
consistent
Leigh
Syndrome,
while
MR
spectroscopy
had
increased
lactate
peak.
Western
blots
fibroblasts
decreased
COX2
These
results
support
the
pathogenicity
identified
here.
Frontiers in Immunology,
Journal Year:
2023,
Volume and Issue:
14
Published: June 30, 2023
Exposure
to
any
number
of
stressors
during
the
first
1000
days
from
conception
age
2
years
is
important
in
shaping
an
individual’s
life
trajectory
health
and
disease.
Despite
expanding
range
as
well
later-life
phenotypes
outcomes,
underlying
molecular
mechanisms
remain
unclear.
Our
previous
data
strongly
suggests
that
early-life
exposure
a
stressor
reduces
capacity
immune
system
generate
subsequent
generations
naïve
cells,
while
others
have
shown
that,
early
stress
impairs
neuronal
stem
cells
proliferate
they
age.
This
leads
us
“stem
cell
hypothesis”
whereby
adversity
sensitive
period
acts
through
common
mechanism
all
types
by
programming
tissue
resident
progenitor
cells.
Furthermore,
we
review
mechanistic
differences
observed
fully
differentiated
suggest
(ELA)
may
alter
mitochondria
consequently
destiny
these
producing
lifelong
“supply”
functionally
altered
Clinical and Translational Medicine,
Journal Year:
2024,
Volume and Issue:
14(5)
Published: May 1, 2024
Abstract
Ribosomal
RNA
(rRNA)
modifications,
essential
components
of
ribosome
structure
and
function,
significantly
impact
cellular
proteomics
cancer
biology.
These
chemical
modifications
transcend
structural
roles,
critically
shaping
functionality
influencing
protein
profiles.
In
this
review,
the
mechanisms
by
which
rRNA
regulate
both
functions
broader
physiological
processes
are
discussed.
Importantly,
altering
translational
output,
can
shift
equilibrium
towards
oncogenesis,
thus
playing
a
key
role
in
development
progression.
Moreover,
special
focus
is
placed
on
mitochondrial
their
aberrant
expression
cancer,
an
area
with
profound
implications
yet
largely
uncharted.
Dysregulation
these
lead
to
metabolic
dysfunction
apoptosis
resistance,
hallmark
traits
cells.
Furthermore,
current
challenges
future
perspectives
targeting
highlighted
as
therapeutic
approach
for
treatment.
conclusion,
represent
frontier
research,
offering
novel
insights
possibilities.
Understanding
harnessing
pave
way
breakthroughs
treatment,
potentially
transforming
combating
complex
disease.
Frontiers in Cell and Developmental Biology,
Journal Year:
2022,
Volume and Issue:
10
Published: Feb. 11, 2022
Mitochondria,
in
symbiosis
with
the
host
cell,
carry
out
a
wide
variety
of
functions
from
generating
energy,
regulating
metabolic
processes,
cell
death
to
inflammation.
The
most
prominent
function
mitochondria
relies
on
oxidative
phosphorylation
(OXPHOS)
system.
OXPHOS
heavily
influences
mitochondrial-nuclear
communication
through
plethora
interconnected
signaling
pathways.
Additionally,
owing
bacterial
ancestry,
also
harbor
large
number
Damage
Associated
Molecular
Patterns
(DAMPs).
These
molecules
relay
information
about
state
mitochondrial
health
and
dysfunction
innate
immune
Consequently,
depending
intracellular
or
extracellular
nature
detection,
different
inflammatory
pathways
are
elicited.
One
group
DAMPs,
nucleic
acids,
hijack
antiviral
DNA
RNA
sensing
mechanisms
such
as
cGAS/STING
RIG-1/MAVS
A
pro-inflammatory
response
is
invoked
by
these
signals
predominantly
type
I
interferon
(T1-IFN)
cytokines.
This
affects
range
organ
systems
which
exhibit
clinical
presentations
auto-immune
disorders.
Interestingly,
tumor
cells
too,
have
devised
ingenious
ways
use
mediated
cGAS-STING-IRF3
promote
neoplastic
transformations
develop
micro-environments.
Thus,
acid-sensing
fundamental
understanding
source
disease
initiation
development.
Apart
pathological
interest,
recent
studies
attempt
delineate
structural
considerations
for
release
acids
across
membranes.
Hence,
this
review
presents
comprehensive
overview
aspects
acid-sensing.
It
attempts
summarize
molecular
patterns
involved,
their
recognition
cytoplasm
signaling.
Finally,
major
emphasis
given
elaborate
resulting
patho-physiologies.
Frontiers in Cell and Developmental Biology,
Journal Year:
2024,
Volume and Issue:
12
Published: Feb. 23, 2024
Introduction:
Rare
disorders
that
are
genetically
and
clinically
heterogeneous,
such
as
mitochondrial
diseases
(MDs),
have
a
challenging
diagnosis.
Nuclear
genes
codify
most
proteins
involved
in
biogenesis,
despite
all
mitochondria
having
their
own
DNA.
The
development
of
next-generation
sequencing
(NGS)
technologies
has
revolutionized
the
understanding
many
pathogenesis
MDs.
In
this
new
genetic
era,
using
NGS
approach,
we
aimed
to
identify
etiology
for
suspected
MD
cohort
450
Portuguese
patients.
Methods:
We
examined
patients
combined
strategy,
starting
with
analysis
targeted
panel
213
nuclear
genes,
then
proceeding
analyze
whole
Results
Discussion:
study,
identified
disease-related
variants
134
(30%)
analyzed
patients,
88
DNA
(nDNA)
46
(mtDNA)
variants,
them
being
pediatric
(66%),
which
77%
were
nDNA
23%
mtDNA.
molecular
revealed
72
already
described
pathogenic
20
novel,
probably
pathogenic,
well
62
unknown
significance.
For
MDs,
use
customized
gene
provided
diagnosis
timely
cost-effective
manner.
Patients
who
cannot
be
diagnosed
after
initial
approach
will
further
selected
whole-exome
sequencing.
Conclusion:
As
national
laboratory
study
research
demonstrated
power
achieve
etiology,
expanding
mutational
spectrum
proposing
accurate
counseling
group
heterogeneous
without
therapeutic
options.
Environmental Research,
Journal Year:
2021,
Volume and Issue:
199, P. 111342 - 111342
Published: May 18, 2021
A
growing
body
of
evidence
links
maternal
exposure
to
particulate
matter
<2.5
μM
in
diameter
(PM2.5)
and
deviations
fetal
growth.
Several
studies
suggest
that
the
placenta
plays
a
critical
role
conveying
effects
PM2.5
developing
fetus.
These
include
observed
associations
between
air
pollutants
candidate
placental
features,
such
as
mitochondrial
DNA
content,
methylation
telomere
length.
However,
gaps
remain
delineating
pathways
linking
pollution-related
health
effects,
including
comprehensive
profiling
processes
impacted
by
exposure.
In
this
study,
we
examined
alterations
transcriptome-wide
network
relation
prior
during
pregnancy
infant
birthweight.
We
evaluated
RNA-sequencing
data
among
study
participants
enrolled
Rhode
Island
Child
Health
Study
(RICHS).
Daily
residential
levels
were
estimated
using
hybrid
model
incorporating
land-use
regression
satellite
remote
sensing
data.
Distributed
lag
models
implemented
assess
impact
on
birthweight
due
weekly
averages
ranging
from
12
weeks
gestation
until
birth.
Correlations
assessed
averaged
across
identified
window
susceptibility
gene
coexpression
previously
generated
WGCNA
R
package.
sensitive
spanning
13
into
which
is
significantly
associated
with
reduced
Two
modules
enriched
for
genes
involved
amino
acid
transport
cellular
respiration
correlated
well
growth
restriction
window.
Our
findings
may
alter
programming
growth,
potential
implications
downstream
cardiometabolic
outcomes
viral
infections.
