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Cytokine profiling in patients with VCP-associated disease.
[inclusion body myositis]
Valosin
containing
protein
(
VCP
)
disease
(
also
known
as
Inclusion
Body
Myopathy
,
Paget
Disease
of
Bone
and
Frontotemporal
Dementia
[
IBMPFD
]
syndrome
)
is
caused
by
mutations
in
the
gene
encoding
VCP
classically
affecting
the
muscle
,
bone
and
brain
.
Although
the
genetic
cause
has
been
identified
,
details
regarding
the
pathogenesis
of
IBMPFD
have
not
been
fully
determined
.
Muscle
wasting
observed
in
VCP
disease
is
suggestive
of
cytokine
imbalance
.
We
hypothesized
that
dysfunctional
protein
homeostasis
caused
by
VCP
mutations
leads
to
cytokine
imbalances
thereby
contributing
to
the
muscle
wasting
phenotype
.
Circulating
levels
of
interleukin-
4
(
IL
-
4
)
,
interleukin-
6
(
IL
-
6
)
,
tumor
necrosis
factor
alpha
(
TNF
a
)
and
epidermal
growth
factor
(
EGF
)
were
measured
in
plasma
of
patients
with
VCP
disease
or
controls
.
TNF
a
and
EGF
were
significantly
altered
in
VCP
disease
as
compared
to
control
.
TNF
a
was
up-regulated
,
consistent
with
a
cachexia
phenotype
and
EGF
levels
were
increased
.
No
significant
differences
were
observed
in
IL
-
4
and
IL
-
6
.
Cytokine
imbalances
may
be
associated
with
VCP
disease
and
may
play
a
contributory
role
in
VCP
myopathy
.
Further
understanding
of
how
VCP
dysfunction
leads
to
aberrant
protein
homeostasis
and
subsequent
cytokine
imbalances
may
also
aid
in
the
understanding
of
other
proteinopathies
and
in
the
development
of
novel
treatments
.
Diseases
Validation
Diseases presenting
"further understanding"
symptom
inclusion body myositis
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