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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
"exertion-induced symptoms"
symptom
inclusion body myositis
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