Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"muscle biopsies"
symptom
cadasil
inclusion body myositis
pyruvate dehydrogenase deficiency
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom