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Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1.
[harlequin ichthyosis]
Plasminogen
activator
inhibitor-
2
(
PAI-
2
)
,
a
regulatory
serpin
of
the
plasminogen
activator
(
PA
)
system
,
has
been
described
as
a
potential
component
of
the
cornified
cell
envelope
(
CE
)
.
Protease
inhibitors
are
essential
for
skin
homeostasis
and
in
particular
for
the
regulation
of
the
desquamation
process
.
Therefore
,
an
aberrant
expression
of
PAI-
2
could
be
involved
in
the
pathogenesis
of
certain
cornification
disorders
.
Evaluation
of
the
expression
of
PAI-
2
in
different
types
of
congenital
ichthyosis
,
especially
in
lamellar
ichthyosis
/
nonbullous
congenital
ichthyosiform
erythroderma
(
LI
/
NCIE
)
and
in
Netherton
syndrome
(
NTS
)
.
Demonstration
of
the
functional
relationship
between
PAI-
2
and
transglutaminase
(
TGase
)
-
1
.
U
sing
immunohistochemistry
we
evaluated
cryosections
from
individuals
suffering
from
LI
/
NCIE
(
n
=
67
)
,
NTS
(
n
=
6
)
,
ichthyosis
-follicularis-atrichia-
photophobia
syndrome
(
n
=
2
)
and
Harlequin
ichthyosis
(
n
=
1
)
in
comparison
with
psoriasis
vulgaris
and
healthy
skin
.
Moreover
,
we
assessed
the
respective
TGase-
1
activity
and
the
presence
of
TGase-
1
protein
.
A
functional
assay
was
developed
to
elucidate
whether
PAI-
2
is
a
substrate
for
TGase-
1
.
PAI-
2
is
expressed
in
different
types
of
congenital
ichthyosis
and
there
is
a
strong
correlation
between
TGase-
1
activity
and
PAI-
2
protein
signal
.
Double
staining
revealed
a
strong
colocalization
of
TGase-
1
activity
and
PAI-
2
protein
.
The
epidermal
incorporation
of
the
specific
PAI-
2
peptide
containing
a
TGase
binding
site
revealed
a
strong
pericellular
staining
in
the
stratum
granulosum
in
healthy
skin
.
In
contrast
,
TGase-
1
-
deficient
skin
showed
only
a
lamellar
staining
in
the
stratum
corneum
.
We
provide
in
vivo
evidence
that
PAI-
2
is
a
substrate
of
TGase-
1
.
The
normal
expression
of
PAI-
2
in
a
large
group
of
TGase-
1
-
proficient
LI
/
NCIE
patients
makes
it
rather
unlikely
that
PAI-
2
alone
is
a
primary
molecular
cause
of
LI
/
NCIE
.
Diseases
Validation
Diseases presenting
"nonbullous congenital ichthyosiform erythroderma"
symptom
harlequin ichthyosis
lamellar ichthyosis
This symptom has already been validated