Journal of Inherited Metabolic Disease,
Год журнала:
2024,
Номер
48(1)
Опубликована: Июнь 14, 2024
Abstract
Mitochondria
are
dynamic
cellular
organelles
with
complex
roles
in
metabolism
and
signalling.
Primary
mitochondrial
disorders
a
group
of
approximately
400
monogenic
arising
from
pathogenic
genetic
variants
impacting
structure,
ultrastructure
and/or
function.
Amongst
these
disorders,
defects
lipid
biosynthesis,
especially
the
unique
membrane
cardiolipin,
biology
an
emerging
characterised
by
clinical
heterogeneity,
but
recurrent
features
including
cardiomyopathy,
encephalopathy,
neurodegeneration,
neuropathy
3‐methylglutaconic
aciduria.
This
review
discusses
synthesis
membrane,
contact
site
cristae
organising
system
(MICOS),
dynamics
trafficking,
associated
each
processes.
We
highlight
overlapping
functions
proteins
involved
biosynthesis
protein
import
into
mitochondria,
pointing
to
overarching
coordination
synchronisation
functions.
also
focuses
on
interactions
between
mitochondria
other
organelles,
namely
endoplasmic
reticulum,
peroxisomes,
lysosomes
droplets.
signpost
that
may
explain
observation
secondary
dysfunction
heterogeneous
pathological
Disruption
organellar
ultimately
impairs
homeostasis
organismal
health,
highlighting
central
role
human
health
disease.
Proceedings of the National Academy of Sciences,
Год журнала:
2023,
Номер
120(44)
Опубликована: Окт. 25, 2023
Inter-organelle
contact
sites
between
mitochondria
and
lysosomes
mediate
the
crosstalk
bidirectional
regulation
of
their
dynamics
in
health
disease.
However,
mitochondria–lysosome
misregulation
have
not
been
investigated
peripheral
sensory
neurons.
Charcot–Marie–Tooth
type
2B
disease
is
an
autosomal
dominant
axonal
neuropathy
affecting
neurons
caused
by
mutations
GTPase
Rab7.
Using
live
super-resolution
confocal
time-lapse
microscopy,
we
showed
that
dynamically
form
soma
axons
Interestingly,
mutant
Rab7
led
to
prolonged
site
tethering
preferentially
neurons,
due
impaired
GTP
hydrolysis–mediated
untethering.
We
further
generated
a
knock-in
mouse
model
which
exhibited
defective
downstream
mitochondrial
hydrolysis
as
well
fragmented
axon
sciatic
nerve.
Importantly,
mice
demonstrated
preferential
behavioral
abnormalities
neuropathy,
highlighting
important
role
for
driving
degeneration
Together,
this
study
identifies
pathogenesis
neuropathy.
International Journal of Molecular Sciences,
Год журнала:
2024,
Номер
25(3), С. 1624 - 1624
Опубликована: Янв. 28, 2024
Age-related
macular
degeneration
(AMD)
is
a
severe
retinal
disease
that
causes
irreversible
visual
loss
and
blindness
in
elderly
populations
worldwide.
The
pathological
mechanism
of
AMD
complex,
involving
the
interactions
multiple
environmental
genetic
factors.
A
poor
understanding
leads
to
limited
treatment
options
few
effective
prevention
methods.
discovery
autoantibodies
patients
provides
an
opportunity
explore
pathogenesis
direction
disease.
This
review
focuses
on
mitochondria-associated
summarizes
functional
roles
mitochondria
under
physiological
conditions
their
alterations
during
states.
Additionally,
it
discusses
crosstalk
between
other
organelles,
as
well
mitochondria-related
therapeutic
strategies
AMD.
Medicinal Research Reviews,
Год журнала:
2024,
Номер
44(6), С. 2472 - 2509
Опубликована: Май 6, 2024
Previously,
lysosomes
were
primarily
referred
to
as
the
digestive
organelles
and
recycling
centers
within
cells.
Recent
discoveries
have
expanded
lysosomal
functional
scope
revealed
their
critical
roles
in
nutrient
sensing,
epigenetic
regulation,
plasma
membrane
repair,
lipid
transport,
ion
homeostasis,
cellular
stress
response.
Lysosomal
dysfunction
is
also
found
be
associated
with
aging
several
diseases.
Therefore,
function
of
macroautophagy,
a
lysosome-dependent
intracellular
degradation
system,
has
been
identified
one
updated
twelve
hallmarks
aging.
In
this
review,
we
begin
by
introducing
concept
quality
control
(LQC),
which
machinery
that
maintains
number,
morphology,
through
different
processes
such
biogenesis,
reformation,
fission,
fusion,
turnover,
lysophagy,
exocytosis,
permeabilization
repair.
Next,
summarize
results
from
studies
reporting
association
between
LQC
dysregulation
aging/various
disorders.
Subsequently,
explore
emerging
therapeutic
strategies
target
distinct
aspects
for
treating
diseases
combatting
Lastly,
underscore
existing
knowledge
gap
propose
potential
avenues
future
research.
Journal of Inherited Metabolic Disease,
Год журнала:
2024,
Номер
48(1)
Опубликована: Июнь 14, 2024
Abstract
Mitochondria
are
dynamic
cellular
organelles
with
complex
roles
in
metabolism
and
signalling.
Primary
mitochondrial
disorders
a
group
of
approximately
400
monogenic
arising
from
pathogenic
genetic
variants
impacting
structure,
ultrastructure
and/or
function.
Amongst
these
disorders,
defects
lipid
biosynthesis,
especially
the
unique
membrane
cardiolipin,
biology
an
emerging
characterised
by
clinical
heterogeneity,
but
recurrent
features
including
cardiomyopathy,
encephalopathy,
neurodegeneration,
neuropathy
3‐methylglutaconic
aciduria.
This
review
discusses
synthesis
membrane,
contact
site
cristae
organising
system
(MICOS),
dynamics
trafficking,
associated
each
processes.
We
highlight
overlapping
functions
proteins
involved
biosynthesis
protein
import
into
mitochondria,
pointing
to
overarching
coordination
synchronisation
functions.
also
focuses
on
interactions
between
mitochondria
other
organelles,
namely
endoplasmic
reticulum,
peroxisomes,
lysosomes
droplets.
signpost
that
may
explain
observation
secondary
dysfunction
heterogeneous
pathological
Disruption
organellar
ultimately
impairs
homeostasis
organismal
health,
highlighting
central
role
human
health
disease.
