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Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice.
[cystinuria]
Cystinuria
is
an
autosomal
recessive
disease
caused
by
mutations
in
SLC
3
A
1
(
rBAT
)
and
SLC
7
A
9
(
b
(
0
,
+
)
AT
)
.
Gene
targeting
of
the
catalytic
subunit
(
Slc
7
a
9
)
in
mice
leads
to
excessive
excretion
of
cystine
,
lysine
,
arginine
,
and
ornithine
.
Here
,
we
studied
this
non-
type
I
cystinuria
mouse
model
using
gene
expression
analysis
,
Western
blotting
,
clearance
,
and
brush-border
membrane
vesicle
(
BBMV
)
uptake
experiments
to
further
characterize
the
renal
and
intestinal
consequences
of
losing
Slc
7
a
9
function
.
The
electrogenic
and
BBMV
flux
studies
in
the
intestine
suggested
that
arginine
and
ornithine
are
transported
via
other
routes
apart
from
system
b
(
0
,
+
)
.
No
remarkable
gene
expression
changes
were
observed
in
other
amino
acid
transporters
and
the
peptide
transporters
in
the
intestine
and
kidney
.
Furthermore
,
the
glomerular
filtration
rate
(
GFR
)
was
reduced
by
30
%
in
knockout
animals
compared
with
wild-
type
animals
.
The
fractional
excretion
of
arginine
was
increased
as
expected
(
∼
100
%
)
,
but
fractional
excretions
of
lysine
(
∼
35
%
)
,
ornithine
(
∼
16
%
)
,
and
cystine
(
∼
11
%
)
were
less
affected
.
Loss
of
function
of
b
(
0
,
+
)
AT
reduced
transport
of
cystine
and
arginine
in
renal
BBMVs
and
completely
abolished
the
exchanger
activity
of
dibasic
amino
acids
with
neutral
amino
acids
.
In
conclusion
,
loss
of
Slc
7
a
9
function
decreases
the
GFR
and
increases
the
excretion
of
several
amino
acids
to
a
lesser
extent
than
expected
with
no
clear
regulation
at
the
mRNA
and
protein
level
of
alternative
transporters
and
no
increased
renal
epithelial
uptake
.
These
observations
indicate
that
transporters
located
in
distal
segments
of
the
kidney
and
/
or
metabolic
pathways
may
partially
compensate
for
Slc
7
a
9
loss
of
function
.
Diseases
Validation
Diseases presenting
"increased renal epithelial uptake. these observations"
symptom
cystinuria
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