Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated