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Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.
[inclusion body myositis]
TDP
43
protein
mislocalization
is
a
hallmark
of
the
neurodegenerative
diseases
amyotrophic
lateral
sclerosis
and
frontotemporal
dementia
,
and
mutations
in
the
gene
encoding
TDP
43
cause
both
disorders
,
further
highlighting
its
role
in
disease
pathogenesis
.
TDP
43
is
a
heterogenous
ribonucleoprotein
,
therefore
suggesting
that
alterations
in
RNA
metabolism
play
a
role
in
these
disorders
,
although
direct
evidence
in
patients
is
lacking
.
Sporadic
inclusion
body
myositis
(
sIBM
)
is
the
most
common
acquired
myopathy
occurring
in
adults
aged
older
than
50
years
and
abnormal
cytoplasmic
accumulations
of
TDP
43
have
been
consistently
described
in
sIBM
myofibers
.
Here
,
we
exploit
high
quality
RNA
from
frozen
sIBM
muscle
biopsies
for
transcriptomic
studies
on
TDP
43
-
proteinopathy
patient
tissue
.
Surprisingly
,
we
found
widespread
sIBM
-
specific
changes
in
the
RNA
metabolism
pathways
themselves
.
Consistent
with
this
finding
,
we
describe
novel
RNA
binding
proteins
to
mislocalize
in
the
cytoplasm
of
sIBM
myofibers
and
splicing
changes
in
MAPT
,
a
gene
previously
shown
to
play
a
role
in
sIBM
.
Our
data
indicate
widespread
alterations
of
RNA
metabolism
are
a
novel
aspect
of
disease
pathogenesis
in
sIBM
.
These
findings
also
document
an
association
,
in
TDP
43
-
proteinopathy
patients
,
between
heterogenous
ribonucleoprotein
pathology
and
RNA
metabolism
alterations
and
carry
importance
for
neurodegenerative
diseases
,
such
as
amyotrophic
lateral
sclerosis
and
frontotemporal
dementia
.
Diseases
Validation
Diseases presenting
"accumulations of tdp43"
symptom
inclusion body myositis
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