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Sodium phenylbutyrate reverses lysosomal dysfunction and decreases amyloid-β42 in an in vitro-model of inclusion-body myositis.
[inclusion body myositis]
Sporadic
inclusion-body
myositis
(
s-
IBM
)
is
a
severe
,
progressive
muscle
disease
for
which
there
is
no
enduring
treatment
.
Pathologically
characteristic
are
vacuolated
muscle
fibers
having
:
accumulations
of
multi-protein
aggregates
,
including
amyloid-β
(
Aβ
)
42
and
its
toxic
oligomers
;
increased
γ-secretase
activity
;
and
impaired
autophagy
.
Cultured
human
muscle
fibers
with
experimentally-
impaired
autophagy
recapitulate
some
of
the
s-
IBM
muscle
abnormalities
,
including
vacuolization
and
decreased
activity
of
lysosomal
enzymes
,
accompanied
by
increased
Aβ
42
,
Aβ
42
oligomers
,
and
increased
γ-secretase
activity
.
Sodium
phenylbutyrate
(
NaPB
)
is
an
orally
bioavailable
small
molecule
approved
by
the
FDA
for
treatment
of
urea-cycle
disorders
.
Here
we
describe
that
NaPB
treatment
reverses
lysosomal
dysfunction
in
an
in
vitro
model
of
inclusion-body
myositis
,
involving
cultured
human
muscle
fibers
.
NaPB
treatment
improved
lysosomal
activity
,
decreased
Aβ
42
and
its
oligomers
,
decreased
γ-secretase
activity
,
and
virtually
prevented
muscle
-fiber
vacuolization
.
Accordingly
,
NaPB
might
be
considered
a
potential
treatment
of
s-
IBM
patients
.
Diseases
Validation
Diseases presenting
"muscle fibers"
symptom
epidermolysis bullosa simplex
focal myositis
inclusion body myositis
pyomyositis
systemic capillary leak syndrome
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