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Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression.
[pendred syndrome]
Mutations
of
SLC
26
A
4
cause
an
enlarged
vestibular
aqueduct
,
nonsyndromic
deafness
,
and
deafness
as
part
of
Pendred
syndrome
.
SLC
26
A
4
encodes
pendrin
,
an
anion
exchanger
located
in
the
cochlea
,
thyroid
,
and
kidney
.
The
goal
of
the
present
study
was
to
determine
whether
developmental
delays
,
possibly
mediated
by
systemic
or
local
hypothyroidism
,
contribute
to
the
failure
to
develop
hearing
in
mice
lacking
Slc
26
a
4
(
Slc
26
a
4
(
-
/
-
)
)
.
We
evaluated
thyroid
function
by
voltage
and
pH
measurements
,
by
array-assisted
gene
expression
analysis
,
and
by
determination
of
plasma
thyroxine
levels
.
Cochlear
development
was
evaluated
for
signs
of
hypothyroidism
by
microscopy
,
in
situ
hybridization
,
and
quantitative
RT-PCR
.
No
differences
in
plasma
thyroxine
levels
were
found
in
Slc
26
a
4
(
-
/
-
)
and
sex-matched
Slc
26
a
4
(
+
/
-
)
littermates
between
postnatal
day
5
(
P
5
)
and
P
90
.
In
adult
Slc
26
a
4
(
-
/
-
)
mice
,
the
transepithelial
potential
and
the
pH
of
thyroid
follicles
were
reduced
.
No
differences
in
the
expression
of
genes
that
participate
in
thyroid
hormone
synthesis
or
ion
transport
were
observed
at
P
15
,
when
plasma
thyroxine
levels
peaked
.
Scala
media
of
the
cochlea
was
10
-
fold
enlarged
,
bulging
into
and
thereby
displacing
fibrocytes
,
which
express
Dio
2
to
generate
a
cochlear
thyroid
hormone
peak
at
P
7
.
Cochlear
development
,
including
tunnel
opening
,
arrival
of
efferent
innervation
at
outer
hair
cells
,
endochondral
and
intramembraneous
ossification
,
and
developmental
changes
in
the
expression
of
Dio
2
,
Dio
3
,
and
Tectb
were
delayed
by
1
-
4
days
.
These
data
suggest
that
pendrin
functions
as
a
HCO
3
-
transporter
in
the
thyroid
,
that
Slc
26
a
4
(
-
/
-
)
mice
are
systemically
euthyroid
,
and
that
delays
in
cochlear
development
,
possibly
due
to
local
hypothyroidism
,
lead
to
the
failure
to
develop
hearing
.
Diseases
Validation
Diseases presenting
"postnatal day"
symptom
canavan disease
child syndrome
dentinogenesis imperfecta
hydrocephalus with stenosis of the aqueduct of sylvius
lamellar ichthyosis
pendred syndrome
zellweger syndrome
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