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Impact of bicarbonate, ammonium chloride, and acetazolamide on hepatic and renal SLC26A4 expression.
[pendred syndrome]
SLC
26
A
4
encodes
pendrin
,
a
transporter
exchanging
anions
such
as
chloride
,
bicarbonate
,
and
iodide
.
Loss
of
function
mutations
of
SLC
26
A
4
cause
Pendred
syndrome
characterized
by
hearing
loss
and
enlarged
vestibular
aqueducts
as
well
as
variable
hypothyroidism
and
goiter
.
In
the
kidney
,
pendrin
is
expressed
in
the
distal
nephron
and
accomplishes
HCO
(
3
)
(
-
)
secretion
and
Cl
(
-
)
reabsorption
.
Renal
pendrin
expression
is
regulated
by
acid-base
balance
.
The
liver
contributes
to
acid-base
regulation
by
producing
or
consuming
glutamine
,
which
is
utilized
by
the
kidney
for
generation
and
excretion
of
NH
(
4
)
(
+
)
,
paralleled
by
HCO
(
3
)
(
-
)
formation
.
Little
is
known
about
the
regulation
of
pendrin
in
liver
.
The
present
study
thus
examined
the
expression
of
Slc
26
a
4
in
liver
and
kidney
of
mice
drinking
tap
water
without
or
with
NaHCO
(
3
)
(
150
mM
)
,
NH
(
4
)
Cl
(
280
mM
)
or
acetazolamide
(
3
.
6
mM
)
for
seven
days
.
As
compared
to
Gapdh
transcript
levels
,
Slc
26
a
4
transcript
levels
were
moderately
lower
in
liver
than
in
renal
tissue
.
Slc
26
a
4
transcript
levels
were
not
significantly
affected
by
NaHCO
(
3
)
in
liver
,
but
significantly
increased
by
NaHCO
(
3
)
in
kidney
.
Pendrin
protein
expression
was
significantly
enhanced
in
kidney
and
reduced
in
liver
by
NaHCO
(
3
)
.
Slc
26
a
4
transcript
levels
were
significantly
increased
by
NH
(
4
)
Cl
and
acetazolamide
in
liver
,
and
significantly
decreased
by
NH
(
4
)
Cl
and
by
acetazolamide
in
kidney
.
NH
(
4
)
Cl
and
acetazolamide
reduced
pendrin
protein
expression
significantly
in
kidney
,
but
did
not
significantly
modify
pendrin
protein
expression
in
liver
.
The
observations
point
to
expression
of
pendrin
in
the
liver
and
to
opposite
effects
of
acidosis
on
pendrin
transcription
in
liver
and
kidney
.
Diseases
Validation
Diseases presenting
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated
