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Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.
[lamellar ichthyosis]
Lamellar
ichthyosis
(
LI
)
is
a
genetically
heterogeneous
,
severe
genodermatosis
showing
widespread
hyperkeratosis
of
the
skin
.
Transglutaminase
1
(
TGase
1
)
deficiency
by
TGase
1
gene
(
TGM
1
)
mutations
is
the
most
prevalent
cause
of
LI
.
Screening
of
TGase
1
deficiency
in
skin
is
essential
to
facilitate
the
molecular
diagnosis
of
LI
.
However
,
cadaverine
,
the
most
widely
used
substrate
for
TGase
activity
assay
,
is
not
isozyme
specific
.
Recently
,
a
human
TGase
1
-
specific
highly
preferred
substrate
peptide
K
5
(
pepK
5
)
was
generated
.
To
evaluate
its
potential
as
a
diagnostic
tool
for
LI
,
we
performed
pepK
5
labeling
of
TGase
1
activity
in
normal
human
and
LI
skin
.
Ca
(
2
+
)
-
dependent
labeling
of
FITC-pepK
5
was
clearly
seen
in
the
upper
spinous
and
granular
layers
of
normal
human
skin
where
it
precisely
overlapped
with
TGase
1
immunostaining
.
Both
specificity
and
sensitivity
of
FITC-pepK
5
labeling
for
TGase
1
activity
were
higher
than
those
of
FITC-cadaverine
labeling
.
FITC-pepK
5
labeling
colocalized
with
involucrin
and
loricrin
immunostaining
at
cornified
cell
envelope
forming
sites
.
FITC-pepK
5
labeling
was
negative
in
LI
patients
carrying
TGM
1
truncation
mutations
and
partially
abolished
in
the
other
LI
patients
harboring
missense
mutations
.
The
present
results
clearly
indicate
that
pepK
5
is
a
powerful
tool
for
screening
LI
patient
TGase
1
deficiency
when
we
make
molecular
diagnosis
of
LI
.