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Increased cystatin C in astrocytes of transgenic mice expressing the K670N-M671L mutation of the amyloid precursor protein and deposition in brain amyloid plaques.
[hereditary cerebral hemorrhage with amyloidosis]
Cystatin
C
is
an
essential
secretory
cofactor
for
neurogenesis
with
potent
protease
inhibitor
activities
.
Polymorphisms
of
cystatin
C
are
genetically
associated
with
Alzheimer
's
disease
(
AD
)
,
and
the
L
68
Q
mutation
causes
hereditary
cerebral
hemorrhage
with
amyloidosis
of
the
Icelandic
type
,
in
which
cystatin
C
and
beta
-amyloid
are
colocalized
in
cortical
blood
vessels
.
To
determine
whether
cystatin
C
and
beta
-amyloid
also
colocalize
in
brain
amyloid
plaques
,
we
analyzed
transgenic
mice
expressing
the
Swedish
APP
(
SweAPP
)
mutation
.
We
found
high
levels
of
cystatin
C
in
astrocytes
surrounding
beta
-amyloid
plaques
,
and
discrete
layers
of
cystatin
C
attached
to
amyloid
plaque
cores
covered
by
a
layer
of
beta
-amyloid
.
In
addition
,
cystatin
C
accumulated
in
reactive
astrocytes
throughout
the
brain
,
independently
of
,
and
before
the
onset
of
,
amyloid
plaque
formation
.
These
results
show
that
expression
of
SweAPP
is
associated
with
increased
cystatin
C
in
reactive
astrocytes
,
and
they
suggest
an
early
role
of
cystatin
C
in
appositional
amyloid
plaque
growth
.
Diseases
Validation
Diseases presenting
"high levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
cadasil
canavan disease
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
liposarcoma
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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