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Region- and age-dependent alterations of glial-neuronal metabolic interactions correlate with CNS pathology in a mouse model of globoid cell leukodystrophy.
[krabbe disease]
Globoid
cell
leukodystrophy
(
GLD
)
or
Krabbe
disease
is
a
lysosomal
storage
disorder
caused
by
genetic
defects
in
the
expression
and
activity
of
galactosylceramidase
,
a
key
enzyme
in
the
catabolism
of
myelin-enriched
sphingolipids
.
While
there
are
several
histologic
,
biochemical
,
and
functional
studies
on
GLD
,
correlations
between
morphologic
and
biochemical
alterations
in
central
nervous
system
(
CNS
)
tissues
during
disease
progression
are
lacking
.
Here
,
we
combined
immunohistochemistry
and
metabolic
analysis
using
(
1
)
H
and
(
13
)
C
magnetic
resonance
(
MR
)
spectra
of
spinal
cord
,
cerebellum
,
and
forebrain
to
investigate
glial-
neuronal
metabolic
interactions
and
dysfunction
in
a
GLD
murine
model
that
recapitulates
the
human
pathology
.
In
order
to
assess
the
temporal
-
and
region-dependent
disease
progression
and
the
potential
metabolic
correlates
,
we
investigated
CNS
tissues
at
mildly
symptomatic
and
fully
symptomatic
stages
of
the
disease
.
When
compared
with
age-matched
controls
,
GLD
mice
showed
glucose
hypometabolism
,
alterations
in
neurotransmitter
content
,
N-
acetylaspartate
,
N-
acetylaspartylglutamate
,
and
osmolytes
levels
.
Notably
,
age-
and
region-dependent
patterns
of
metabolic
disturbances
were
in
close
agreement
with
the
progression
of
astrogliosis
,
microglia
activation
,
apoptosis
,
and
neurodegeneration
.
We
suggest
that
MR
spectroscopy
could
be
used
in
vivo
to
monitor
disease
progression
,
as
well
as
ex
vivo
and
in
vivo
to
provide
criteria
for
the
outcome
of
experimental
therapies
.
Diseases
Validation
Diseases presenting
"we investigated cns tissues at mildly symptomatic and fully symptomatic stages of the disease"
symptom
krabbe disease
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