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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
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
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sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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