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Functional relevance of mitochondrial abnormalities in sporadic inclusion body myositis.
[inclusion body myositis]
Cytochrome
c
oxidase
(
COX
)
-
deficient
fibers
and
multiple
mitochondrial
DNA
(
mtDNA
)
deletions
are
frequent
findings
in
sporadic
inclusion
body
myositis
(
s-
IBM
)
.
However
,
the
functional
impact
of
these
defects
is
not
known
.
We
investigated
oxygen
desaturation
during
exercise
using
the
forearm
exercise
test
,
accumulation
of
lactate
during
exercise
using
a
cycle
ergometry
test
and
mitochondrial
changes
(
COX
-
deficient
fibers
,
biochemical
activities
of
respiratory
chain
complexes
,
multiple
mtDNA
deletions
by
long
-range
polymerase
chain
reaction
)
in
10
patients
with
s-
IBM
and
compared
the
findings
with
age
and
sex-matched
normal
and
diseased
controls
(
without
mitochondrial
disorders
)
as
well
as
patients
with
mitochondrial
disorder
due
to
nuclear
gene
defects
resulting
in
multiple
mtDNA
deletions
(
MITO
group
)
.
The
mean
age
of
the
s-
IBM
patients
was
68
.
2
±
5
.
7
years
(
range
:
56
-
75
)
.
Patients
with
s-
IBM
had
statistically
significantly
reduced
oxygen
desaturation
(
ΔsO
2
)
during
the
handgrip
exercise
(
p
<
0
.
05
)
and
elevated
peak
serum
lactate
levels
during
cycle
ergometry
compared
to
normal
controls
(
p
<
0
.
05
)
.
The
percentage
of
COX
-
deficient
fibers
in
s-
IBM
and
MITO
patients
was
significantly
increased
compared
to
normal
controls
(
p
<
0
.
01
)
.
Five
out
of
nine
s-
IBM
patients
had
multiple
mtDNA
deletions
.
Thirty
-
three
percent
of
s-
IBM
patients
showed
an
increased
citrate
synthase
content
and
decreased
activities
of
complex
IV
(
COX
)
.
The
biochemical
pattern
of
respiratory
chain
complexes
in
patients
with
s-
IBM
and
MITO
was
similar
.
Histopathological
analysis
showed
similar
changes
in
s-
IBM
and
MITO
due
to
nuclear
gene
defects
.
Functional
tests
reflecting
mitochondrial
impairment
suggest
a
contribution
of
mitochondrial
defects
to
disease-related
symptoms
such
as
fatigue
and
exertion-induced
symptoms
.
Diseases
Validation
Diseases presenting
"fatigue"
symptom
benign recurrent intrahepatic cholestasis
cholangiocarcinoma
congenital adrenal hyperplasia
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dracunculiasis
erdheim-chester disease
esophageal carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
lymphangioleiomyomatosis
neuralgic amyotrophy
pleomorphic liposarcoma
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
This symptom has already been validated