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SLC26A4 expression among autoimmune thyroid tissues.
[pendred syndrome]
The
PDS
gene
(
SLC
26
A
4
)
is
responsible
for
Pendred
syndrome
(
PS
)
.
Genetic
analysis
of
PDS
using
Tunisian
samples
showed
evidence
for
linkage
and
association
with
autoimmune
thyroid
diseases
(
AITD
)
emergence
.
In
addition
,
the
PDS
gene
product
,
pendrin
,
was
recently
identified
as
a
novel
autoantigen
in
Graves
'
disease
(
GD
)
or
Hashimoto
thyroiditis
(
HT
)
patients
'
sera
.
The
aim
of
this
study
was
to
quantify
the
PDS
gene
expression
and
to
evaluate
the
pendrin
in
vivo
and
in
vitro
immunolocalisation
.
A
total
of
52
thyroid
gland
tissue
samples
(
22
GD
,
11
HT
,
5
multinodular
goiter
(
MNG
)
,
3
normal
thyroid
tissues
,
8
papillary
thyroid
carcinoma
(
PTC
)
,
1
follicular
thyroid
carcinoma
(
FTC
)
and
2
medullar
thyroid
carcinoma
(
MTC
)
)
were
explored
.
PDS
and
pendrin
expression
levels
were
determined
using
quantitative
RT-PCR
and
immuno-detection
methods
.
TSH
and
thyroglobulin
(
Tg
)
effects
on
pendrin
expression
were
investigated
by
immunofluorescence
on
primary
cell
culture
from
GD
thyroid
tissues
.
The
relative
quantification
using
PDS
transcript
level
among
GD
thyroid
tissues
was
increased
compared
to
normal
thyroid
tissues
used
as
calibrator
(
mean
:
27
.
17
-
fold
higher
than
normal
thyroid
tissues
)
.
However
,
thyroids
with
HT
,
carcinoma
and
MNG
showed
a
decrease
expression
level
(
means
:
92
.
05
-
,
77
.
68
-
,
14
.
3
-
fold
lower
than
normal
thyroid
tissues
,
respectively
)
.
These
results
were
confirmed
by
immunoanalysis
.
Immunofluorescence
results
showed
an
apical
and
a
cytoplasmic
pendrin
localisation
on
GD
thyroid
tissues
and
a
marked
pendrin
expression
reduction
on
HT
thyroid
tissues
.
GD
primary
cell
cultures
under
TSH
and
Tg
stimulation
showed
a
trafficking
improvement
of
pendrin
apical
localisation
.
Our
data
point
to
the
presence
of
a
relation
between
SLC
26
A
4
expression
in
AITD
and
thyroid
function
.
Diseases
Validation
Diseases presenting
"relative quantification"
symptom
alexander disease
fabry disease
pendred syndrome
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