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Peroxisomes are required for lipid metabolism and muscle function in Drosophila melanogaster.
[zellweger syndrome]
Peroxisomes
are
ubiquitous
organelles
that
perform
lipid
and
reactive
oxygen
species
metabolism
.
Defects
in
peroxisome
biogenesis
cause
peroxisome
biogenesis
disorders
(
PBDs
)
.
The
most
severe
PBD
,
Zellweger
syndrome
,
is
characterized
in
part
by
neuronal
dysfunction
,
craniofacial
malformations
,
and
low
muscle
tone
(
hypotonia
)
.
These
devastating
diseases
lack
effective
therapies
and
the
development
of
animal
models
may
reveal
new
drug
targets
.
We
have
generated
Drosophila
mutants
with
impaired
peroxisome
biogenesis
by
disrupting
the
early
peroxin
gene
pex
3
,
which
participates
in
budding
of
pre-peroxisomes
from
the
ER
and
peroxisomal
membrane
protein
localization
.
pex
3
deletion
mutants
lack
detectible
peroxisomes
and
die
before
or
during
pupariation
.
At
earlier
stages
of
development
,
larvae
lacking
Pex
3
display
reduced
size
and
impaired
lipid
metabolism
.
Selective
loss
of
peroxisomes
in
muscles
impairs
muscle
function
and
results
in
flightless
animals
.
Although
,
hypotonia
in
PBD
patients
is
thought
to
be
a
secondary
effect
of
neuronal
dysfunction
,
our
results
suggest
that
peroxisome
loss
directly
affects
muscle
physiology
,
possibly
by
disrupting
energy
metabolism
.
Understanding
the
role
of
peroxisomes
in
Drosophila
physiology
,
specifically
in
muscle
cells
may
reveal
novel
aspects
of
PBD
etiology
.
Diseases
Validation
Diseases presenting
"our results suggest that peroxisome loss directly affects muscle physiology"
symptom
zellweger syndrome
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