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Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
[hereditary cerebral hemorrhage with amyloidosis]
Abstract
Hereditary
cerebral
hemorrhage
with
amyloidosis
-
Dutch
type
is
an
autosomal
dominant
hereditary
disease
caused
by
a
point
mutation
in
the
amyloid
precursor
protein
gene
on
chromosome
21
.
The
mutation
causes
an
amino
acid
substitution
at
codon
693
(
E
22
Q
)
,
the
'
Dutch
mutation
'
.
Amyloid
β
,
the
product
after
cleavage
of
the
amyloid
precursor
protein
,
is
secreted
into
the
extracellular
space
.
The
Dutch
mutation
leads
to
altered
amyloid
β
cleavage
and
secretion
,
enhanced
aggregation
properties
,
higher
proteolysis
resistance
,
lowered
brain
efflux
transporter
affinity
,
and
enhanced
cell
surfaces
binding
.
All
these
result
in
amyloid
β
accumulation
in
cerebral
vessel
walls
,
causing
cell
death
and
vessel
wall
integrity
loss
,
making
cerebral
vessel
walls
in
hereditary
cerebral
hemorrhage
with
amyloidosis
-
Dutch
type
more
prone
to
rupture
and
obstruction
,
leading
to
hemorrhages
and
infarcts
.
Studying
the
effects
of
altered
amyloid
β
metabolism
due
to
mutations
like
the
'
Dutch
'
provides
us
with
a
better
understanding
of
amyloid
β
toxicity
,
also
in
other
amyloid
β
diseases
like
sporadic
cerebral
amyloid
angiopathy
and
Alzheimer
's
disease
.
Diseases
Validation
Diseases presenting
"dominant hereditary disease"
symptom
dentinogenesis imperfecta
erythropoietic protoporphyria
hereditary cerebral hemorrhage with amyloidosis
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