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Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis.
[inclusion body myositis]
Some
features
of
sporadic
inclusion
body
myositis
(
s-
IBM
)
suggest
that
there
is
acceleration
of
the
normal
ageing
process
in
muscle
tissue
.
LMNA
encodes
the
nuclear
lamina
proteins
lamin
A
/
C
through
alternative
splicing
,
and
aberrant
splicing
of
exon
11
leads
to
the
premature
ageing
disease
,
Hutchinson-
Gilford
progeria
syndrome
.
Progerin
,
the
pathogenic
isoform
expressed
in
HGPS
tissues
,
has
also
been
detected
at
low
levels
in
tissues
of
normal
individuals
with
aging
.
We
therefore
investigated
the
alternative
splicing
of
LMNA
gene
transcripts
,
and
the
post-translational
processing
of
prelamin
A
,
in
s-
IBM
and
control
muscle
samples
.
Age-related
low
level
expression
of
the
progerin
transcript
was
detected
in
both
s-
IBM
and
control
muscles
,
but
was
not
increased
in
s-
IBM
and
there
was
no
increase
in
progerin
protein
or
demonstrable
accumulation
of
intermediate
prelamin
isoforms
in
the
s-
IBM
muscles
.
However
,
an
age-related
shift
in
the
balance
of
splicing
towards
lamin
A-
related
transcripts
,
which
was
present
in
normal
muscles
,
was
not
found
in
s-
IBM
.
Our
findings
indicate
that
while
there
are
changes
in
the
patterns
of
LMNA
splicing
in
s-
IBM
muscle
which
are
probably
secondary
to
the
underlying
pathological
process
,
it
is
unlikely
that
aberrant
splicing
of
exon
11
or
defective
post-translational
processing
of
prelamin
A
are
involved
in
the
pathogenesis
of
the
disease
.
Diseases
Validation
Diseases presenting
"muscle samples"
symptom
inclusion body myositis
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