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Efficient KRT14 targeting and functional characterization of transplanted human keratinocytes for the treatment of epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Inherited
skin
blistering
conditions
collectively
named
epidermolysis
bullosa
(
EB
)
cause
significant
morbidity
and
mortality
due
to
the
compromise
of
the
skin
's
barrier
function
,
the
pain
of
blisters
,
inflammation
,
and
in
some
cases
scaring
and
cancer
.
The
simplex
form
of
EB
is
usually
caused
by
dominantly
inherited
mutations
in
KRT
5
or
KRT
14
.
These
mutations
result
in
the
production
of
proteins
with
dominant-negative
activity
that
disrupt
polymerization
of
intermediate
filaments
in
the
basal
keratinocyte
layer
and
result
in
a
weak
epidermal-dermal
junction
.
The
genome
of
adeno-associated
virus
(
AAV
)
vectors
can
recombine
with
chromosomal
sequence
so
that
mutations
can
be
corrected
,
or
production
of
proteins
with
dominant-negative
activity
can
be
disrupted
.
We
demonstrate
a
clinically
feasible
strategy
for
efficient
targeting
of
the
KRT
14
gene
in
normal
and
EB-affected
human
keratinocytes
.
Using
a
gene
-targeting
vector
with
promoter
trap
design
,
targeted
alteration
of
one
allele
of
KRT
14
occurred
in
100
%
of
transduced
cells
and
transduction
frequencies
ranged
from
0
.
1
to
0
.
6
%
of
total
cells
.
EBS
patient
keratinocytes
with
precise
modifications
of
the
mutant
allele
are
preferentially
recovered
from
targeted
cell
populations
.
Single
epidermal
stem
cell
clones
produced
histologically
normal
skin
grafts
after
transplantation
to
athymic
mice
and
could
generate
a
sufficient
number
of
cells
to
transplant
the
entire
skin
surface
of
an
individual
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
