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N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.
[canavan disease]
The
brain
is
unique
among
organs
in
many
respects
,
including
its
mechanisms
of
lipid
synthesis
and
energy
production
.
The
nervous
system-
specific
metabolite
N-
acetylaspartate
(
NAA
)
,
which
is
synthesized
from
aspartate
and
acetyl-coenzyme
A
in
neurons
,
appears
to
be
a
key
link
in
these
distinct
biochemical
features
of
CNS
metabolism
.
During
early
postnatal
central
nervous
system
(
CNS
)
development
,
the
expression
of
lipogenic
enzymes
in
oligodendrocytes
,
including
the
NAA-degrading
enzyme
aspartoacylase
(
ASPA
)
,
is
increased
along
with
increased
NAA
production
in
neurons
.
NAA
is
transported
from
neurons
to
the
cytoplasm
of
oligodendrocytes
,
where
ASPA
cleaves
the
acetate
moiety
for
use
in
fatty
acid
and
steroid
synthesis
.
The
fatty
acids
and
steroids
produced
then
go
on
to
be
used
as
building
blocks
for
myelin
lipid
synthesis
.
Mutations
in
the
gene
for
ASPA
result
in
the
fatal
leukodystrophy
Canavan
disease
,
for
which
there
is
currently
no
effective
treatment
.
Once
postnatal
myelination
is
completed
,
NAA
may
continue
to
be
involved
in
myelin
lipid
turnover
in
adults
,
but
it
also
appears
to
adopt
other
roles
,
including
a
bioenergetic
role
in
neuronal
mitochondria
.
NAA
and
ATP
metabolism
appear
to
be
linked
indirectly
,
whereby
acetylation
of
aspartate
may
facilitate
its
removal
from
neuronal
mitochondria
,
thus
favoring
conversion
of
glutamate
to
alpha
ketoglutarate
which
can
enter
the
tricarboxylic
acid
cycle
for
energy
production
.
In
its
role
as
a
mechanism
for
enhancing
mitochondrial
energy
production
from
glutamate
,
NAA
is
in
a
key
position
to
act
as
a
magnetic
resonance
spectroscopy
marker
for
neuronal
health
,
viability
and
number
.
Evidence
suggests
that
NAA
is
a
direct
precursor
for
the
enzymatic
synthesis
of
the
neuron
specific
dipeptide
N-
acetylaspartylglutamate
,
the
most
concentrated
neuropeptide
in
the
human
brain
.
Other
proposed
roles
for
NAA
include
neuronal
osmoregulation
and
axon-glial
signaling
.
We
propose
that
NAA
may
also
be
involved
in
brain
nitrogen
balance
.
Further
research
will
be
required
to
more
fully
understand
the
biochemical
functions
served
by
NAA
in
CNS
development
and
activity
,
and
additional
functions
are
likely
to
be
discovered
.
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