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Endogenous aggregates of amyloidogenic cystatin C variant are removed by THP-1 cells in vitro and induce differentiation and a proinflammatory response.
[hereditary cerebral hemorrhage with amyloidosis]
A
mutation
in
the
human
cystatin
C
gene
leads
to
familial
cerebral
amyloid
angiopathy
.
This
disease
is
known
as
"
hereditary
cerebral
hemorrhage
with
amyloidosis
-
Icelandic
type
"
or
"
hereditary
cystatin
C
amyloid
angiopathy
.
"
The
mutant
cystatin
C
protein
forms
aggregates
and
amyloid
,
within
the
central
nervous
system
almost
exclusively
in
connection
with
the
vascular
system
.
It
was
not
known
whether
immune
cells
could
remove
mutant
cystatin
C
protein
aggregates
.
Ex
vivo
mutant
cystatin
C
protein
aggregates
,
both
in
solution
and
dried
onto
a
glass
surface
,
induced
adhesion
to
the
substrate
,
differentiated
the
THP-
1
monocyte
cell
line
and
led
to
a
proinflammatory
response
.
Aggregates
were
also
taken
up
by
both
THP-
1
cells
and
THP-
1
derived
macrophages
.
These
are
the
same
responses
induced
by
other
amyloidogenic
protein
species
,
such
as
amyloid
β
protein
and
amylin
,
supporting
the
model
of
all
amyloidogenic
proteins
being
toxic
due
to
common
structural
motifs
.
Proinflammatory
response
induced
by
the
ex
vivo
mutant
cystatin
C
protein
aggregates
suggests
that
vascular
inflammation
plays
an
important
role
in
hereditary
cerebral
hemorrhage
with
amyloidosis
-
Icelandic
type
.
Ex
vivo
protein
aggregates
of
cystatin
C
might
better
model
cellular
behavior
than
in
vitro-generated
aggregates
or
supplement
in
vitro
material
.
Diseases
Validation
Diseases presenting
"cerebral hemorrhage"
symptom
cohen syndrome
hereditary cerebral hemorrhage with amyloidosis
sneddon syndrome
This symptom has already been validated