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Factors that affect postnatal bone growth retardation in the twitcher murine model of Krabbe disease.
[krabbe disease]
Krabbe
disease
is
an
inherited
lysosomal
disorder
in
which
galactosylsphingosine
(
psychosine
)
accumulates
mainly
in
the
central
nervous
system
.
To
gain
insight
into
the
possible
mechanism
(
s
)
that
may
be
participating
in
the
inhibition
of
the
postnatal
somatic
growth
described
in
the
animal
model
of
this
disease
(
twitcher
mouse
,
twi
)
,
we
studied
their
femora
.
This
study
reports
that
twi
femora
are
smaller
than
of
those
of
wild
type
(
wt
)
,
and
present
with
abnormality
of
marrow
cellularity
,
bone
deposition
(
osteoblastic
function
)
,
and
osteoclastic
activity
.
Furthermore
,
lipidomic
analysis
indicates
altered
sphingolipid
homeostasis
,
but
without
significant
changes
in
the
levels
of
sphingolipid-derived
intermediates
of
cell
death
(
ceramide
)
or
the
levels
of
the
osteoclast-osteoblast
coupling
factor
(
sphingosine-
1
-
phosphate
)
.
However
,
there
was
significant
accumulation
of
psychosine
in
the
femora
of
adult
twi
animals
as
compared
to
wt
,
without
induction
of
tumor
necrosis
factor
-alpha
or
interleukin-
6
.
Analysis
of
insulin
-like
growth
factor
-
1
(
IGF-
1
)
plasma
levels
,
a
liver
secreted
hormone
known
to
play
a
role
in
bone
growth
,
indicated
a
drastic
reduction
in
twi
animals
when
compared
to
wt
.
To
identify
the
cause
of
the
decrease
,
we
examined
the
IGF-
1
mRNA
expression
and
protein
levels
in
the
liver
.
The
results
indicated
a
significant
reduction
of
IGF-
1
mRNA
as
well
as
protein
levels
in
the
liver
from
twi
as
compared
to
wt
littermates
.
Our
data
suggest
that
a
combination
of
endogenous
(
psychosine
)
and
endocrine
(
IGF-
1
)
factors
play
a
role
in
the
inhibition
of
postnatal
bone
growth
in
twi
mice
;
and
further
suggest
that
derangements
of
liver
function
may
be
contributing
,
at
least
in
part
,
to
this
alteration
.
Diseases
Validation
Diseases presenting
"insulin-like growth factor-1"
symptom
adrenal incidentaloma
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
krabbe disease
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