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PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study.
[dystrophic epidermolysis bullosa]
Dominant
diseases
are
single
gene
disorders
occurring
in
the
heterozygous
state
.
The
mutated
allele
exerts
a
dominant
effect
because
it
produces
an
abnormal
polypeptide
that
interferes
with
the
function
of
the
normal
allele
product
.
Peptide
Nucleic
Acids
(
PNAs
)
offer
a
route
for
a
potential
therapy
for
dominant
diseases
by
selectively
silencing
the
allele
carrying
the
dominant
mutation
.
Here
,
we
have
synthesized
and
studied
the
properties
of
a
15
-
mer
PNA
fully
complementary
to
the
site
of
the
c
.
5272
-
38
T
>
A
sequence
variation
,
which
identifies
a
recurrent
mutant
COL
7
A
1
allele
causing
dominant
dystrophic
epidermolysis
bullosa
(
DDEB
)
,
a
mendelian
disease
characterized
by
skin
blistering
.
The
PNA
was
conjugated
with
four
lysine
residues
at
the
C-
terminus
and
a
fluorescent
probe
at
the
N-
terminus
.
Physico-chemical
results
proved
the
formation
of
a
stable
,
selective
PNA
/
mutant-
DNA
heteroduplex
in
vitro
.
Intriguingly
,
when
transfected
into
normal
human
fibroblasts
,
the
PNA
correctly
localized
in
the
cell
nucleus
.
Our
results
open
new
therapeutic
possibilities
for
patients
with
DDEB
.
Diseases
Validation
Diseases presenting
"the pna correctly localized in the cell nucleus"
symptom
dystrophic epidermolysis bullosa
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