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Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis.
[aniridia]
Autosomal
recessive
congenital
ichthyosis
(
ARCI
)
is
caused
by
mutations
in
≥
10
different
genes
,
of
which
transglutaminase-
1
(
TGM
1
)
predominates
.
A
rare
form
is
ichthyosis
prematurity
syndrome
(
IPS
)
caused
by
mutations
in
SLC
27
A
4
encoding
fatty
acid
transporter
protein
4
(
FATP
4
)
,
believed
to
be
an
acyl-
CoA
synthetase
activating
long
-
and
very
-
long
-chain
FA
.
Another
ARCI
is
caused
by
mutations
in
NIPAL
4
,
coding
for
ichthyin
,
which
is
proposed
to
be
a
magnesium
transporter
or
a
trans-membrane
receptor
.
A
possible
interaction
between
FATP
4
and
ichthyin
has
not
been
studied
before
.
To
find
common
denominators
in
the
pathogenesis
of
ARCI
.
FATP
4
and
ichthyin
were
analyzed
by
immunofluorescence
and
proximity
ligation
assay
(
PLA
)
in
healthy
and
ARCI
patient
skin
and
in
in
vitro
models
of
ARCI
epidermis
.
Both
proteins
were
expressed
in
the
upper
stratum
granulosum
of
normal
epidermis
and
PLA
confirmed
a
close
interaction
between
FATP
4
and
ichthyin
.
In
IPS
skin
lacking
FATP
4
we
found
reduced
ichthyin
expression
and
this
finding
could
be
reproduced
in
organotypic
epidermis
with
siRNA
silenced
SLC
27
A
4
.
In
contrast
,
increased
FATP
4
staining
was
found
in
patients
with
ichthyin
(
NIPAL
4
)
mutations
and
in
organotypic
epidermis
with
silenced
NIPAL
4
.
In
patients
with
TGM
1
mutations
,
the
expression
of
both
FATP
4
and
ichthyin
was
increased
,
but
the
PLA
signal
was
low
probably
indicating
a
malfunctioning
protein
interaction
.
Our
study
suggests
that
FATP
4
,
ichthyin
and
TGM
1
interact
in
lipid
processing
essential
for
maintaining
the
epidermal
barrier
function
.
It
is
also
hypothesized
that
ichthyin
serves
as
Mg
(
2
+
)
-
transporter
for
FATP
4
in
this
process
.
Diseases
Validation
Diseases presenting
"this finding could be reproduced in organotypic epidermis with sirna silenced slc27a4"
symptom
aniridia
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