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Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease.
[canavan disease]
The
inherited
pediatric
leukodystrophy
Canavan
disease
is
characterized
by
dysmyelination
and
severe
spongiform
degeneration
,
and
is
currently
refractory
to
treatment
.
A
definitive
understanding
of
core
disease
mechanisms
is
lacking
,
but
pathology
is
believed
to
result
at
least
in
part
compromised
fatty
acid
synthesis
during
myelination
.
Recent
evidence
generated
in
an
animal
model
suggests
that
the
breakdown
of
N-
acetylaspartate
metabolism
in
CD
results
in
a
heightened
coupling
of
fatty
acid
synthesis
to
oligodendrocyte
oxidative
metabolism
during
the
early
stages
of
myelination
,
thereby
causing
acute
oxidative
stress
.
We
present
here
the
results
of
a
dietary
intervention
designed
to
support
oxidative
integrity
during
developmental
myelination
in
the
nur
7
mouse
model
of
Canavan
disease
.
Provision
of
the
odd
carbon
triglyceride
triheptanoin
to
neonatal
nur
7
mice
reduced
oxidative
stress
,
promoted
long
-term
oligodendrocyte
survival
,
and
increased
myelin
in
the
brain
.
Improvements
in
oligodendrocyte
survival
and
myelination
were
associated
with
a
highly
significant
reduction
in
spongiform
degeneration
and
improved
motor
function
in
triheptanoin
treated
mice
.
Initiation
of
triheptanoin
treatment
in
older
animals
resulted
in
markedly
more
modest
effects
on
these
same
pathological
indices
,
indicating
a
window
of
therapeutic
intervention
that
corresponds
with
developmental
myelination
.
These
results
support
the
targeting
of
oxidative
integrity
at
early
stages
of
Canavan
disease
,
and
provide
a
foundation
for
the
clinical
development
of
a
non-invasive
dietary
triheptanoin
treatment
regimen
.
Diseases
Validation
Diseases presenting
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated