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The calcium-activated neutral protease calpain I is present in normal foetal skin and is decreased in neonatal harlequin ichthyosis.
[harlequin ichthyosis]
Calcium
concentration
is
a
critical
factor
for
epidermal
differentiation
and
is
implicated
in
the
expression
and
post-translational
modification
of
numerous
proteins
in
suprabasal
cells
of
the
epidermis
.
Calpains
(
calcium
-activated
neutral
proteases
)
are
believed
to
participate
in
signal
transduction
via
highly
regulated
cytoplasmic
protease
activity
.
Here
we
investigate
the
expression
of
calpain
I
in
normal
human
skin
development
and
in
neonatal
harlequin
ichthyosis
(
HI
)
,
a
disorder
of
altered
epidermal
differentiation
,
especially
the
transition
from
the
granular
to
the
fully
differentiated
cornified
layer
.
Calpain
I
was
detected
in
developing
foetal
epidermis
at
54
days
estimated
gestational
age
in
the
basal
layer
and
the
periderm
of
the
developing
foetal
epidermis
.
By
125
days
,
calpain
I
was
also
detected
in
the
granular
layer
.
This
pattern
was
maintained
in
newborn
skin
,
but
expression
was
significantly
weaker
in
HI
biopsies
(
n
=
7
)
.
Reduced
expression
of
calpain
was
specific
to
HI
and
was
not
observed
in
other
skin
diseases
.
Calpain
was
also
normally
expressed
in
the
outer
root
sheath
of
hair
follicles
,
in
sebaceous
glands
and
in
sweat
ducts
and
glands
.
Immunoblots
of
epidermal
and
keratinocyte
extracts
showed
that
the
78
-
kDa
and
76
-
kDa
active
forms
were
generated
via
limited
proteolysis
of
the
80
-
kDa
inactive
subunit
;
however
,
all
forms
were
diminished
in
HI
,
consistent
with
findings
in
tissue
sections
.
Our
results
show
that
calpain
is
present
throughout
the
epidermis
and
is
expressed
from
the
early
stages
of
development
.
These
findings
implicate
calcium
-mediated
signalling
events
in
the
alteration
of
differentiation
that
occurs
in
HI
.
Diseases
Validation
Diseases presenting
"skin diseases"
symptom
cutaneous mastocytosis
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
harlequin ichthyosis
inclusion body myositis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
oculocutaneous albinism
papillon-lefèvre syndrome
sneddon syndrome
systemic capillary leak syndrome
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