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Cystatin C. Icelandic-like mutation in an animal model of cerebrovascular beta-amyloidosis.
[hereditary cerebral hemorrhage with amyloidosis]
Cerebral
amyloid
angiopathy
(
CAA
)
occurs
as
a
sporadic
disorder
in
aged
humans
,
as
a
frequent
component
of
Alzheimer
's
disease
,
or
in
hereditary
cerebral
hemorrhage
with
amyloidosis
(
HCHWA
)
.
The
primary
histological
locus
of
cerebral
amyloid
deposition
varies
in
aged
humans
and
in
different
species
of
nonhuman
primates
.
In
aged
rhesus
monkeys
,
amyloid
deposition
occurs
most
frequently
in
senile
plaques
,
whereas
in
aged
squirrel
monkeys
CAA
is
more
common
.
We
hypothesized
that
the
preponderance
of
CAA
in
squirrel
monkeys
is
related
to
a
species-
specific
amino
acid
change
in
cystatin
C
,
a
cysteine
protease
inhibitor
,
similar
to
the
Leu
68
G
ln
substitution
found
in
the
amyloid
protein
of
Icelandic
patients
with
HCHWA
-
I
,
also
termed
hereditary
cystatin
C
amyloid
angiopathy
.
We
performed
immunohistochemical
analyses
of
brain
sections
of
aged
squirrel
and
rhesus
monkeys
with
anti-amyloid-
beta
and
anti-
cystatin
C
antibodies
and
sequenced
the
cystatin
C
cDNA
of
these
monkeys
.
Cerebral
amyloid
in
aged
squirrel
and
rhesus
monkeys
,
previously
shown
to
be
immunoreactive
with
anti-amyloid-
beta
anti-bodies
,
reacts
also
with
antibodies
to
cystatin
C
.
While
the
predicted
amino
acid
sequence
in
rhesus
monkeys
differs
from
the
human
sequence
by
four
residues
,
that
of
the
squirrel
monkeys
has
seven
additional
amino
acid
substitutions
,
one
of
which
is
Leu
68
Met
.
The
presence
of
a
mutation
in
squirrel
monkeys
similar
to
the
one
found
in
HCHWA
-
I
suggests
that
alterations
in
cystatin
C
may
influence
the
likelihood
that
amyloid
will
be
deposited
in
the
walls
of
cerebral
blood
vessels
.
These
observations
support
the
utilization
of
the
monkeys
as
models
to
study
CAA
.
Diseases
Validation
Diseases presenting
"species-specific amino acid change in cystatin"
symptom
hereditary cerebral hemorrhage with amyloidosis
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