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Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.
[junctional epidermolysis bullosa]
The
continuous
renewal
of
human
epidermis
is
sustained
by
stem
cells
contained
in
the
epidermal
basal
layer
and
in
hair
follicles
.
Cultured
keratinocyte
stem
cells
,
known
as
holoclones
,
generate
sheets
of
epithelium
used
to
restore
severe
skin
,
mucosal
and
corneal
defects
.
Mutations
in
genes
encoding
the
basement
membrane
component
laminin
5
(
LAM
5
)
cause
junctional
epidermolysis
bullosa
(
JEB
)
,
a
devastating
and
often
fatal
skin
adhesion
disorder
.
Epidermal
stem
cells
from
an
adult
patient
affected
by
LAM
5
-
beta
3
-
deficient
JEB
were
transduced
with
a
retroviral
vector
expressing
LAMB
3
cDNA
(
encoding
LAM
5
-
beta
3
)
,
and
used
to
prepare
genetically
corrected
cultured
epidermal
grafts
.
Nine
grafts
were
transplanted
onto
surgically
prepared
regions
of
the
patient
's
legs
.
Engraftment
was
complete
after
8
d
.
Synthesis
and
proper
assembly
of
normal
levels
of
functional
LAM
5
were
observed
,
together
with
the
development
of
a
firmly
adherent
epidermis
that
remained
stable
for
the
duration
of
the
follow-up
(
1
year
)
in
the
absence
of
blisters
,
infections
,
inflammation
or
immune
response
.
Retroviral
integration
site
analysis
indicated
that
the
regenerated
epidermis
is
maintained
by
a
defined
repertoire
of
transduced
stem
cells
.
These
data
show
that
ex
vivo
gene
therapy
of
JEB
is
feasible
and
leads
to
full
functional
correction
of
the
disease
.
Diseases
Validation
Diseases presenting
"full functional correction of the disease"
symptom
junctional epidermolysis bullosa
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