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The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid.
[x-linked adrenoleukodystrophy]
ABCD
2
(
D
2
)
is
a
peroxisomal
transporter
that
is
highly
abundant
in
adipose
tissue
and
promotes
the
oxidation
of
long
-chain
MUFA
.
Erucic
acid
(
EA
,
22
:
1
ω
9
)
reduces
very
long
chain
saturated
fatty
acids
in
patients
with
X-
linked
adrenoleukodystrophy
but
promotes
dyslipidemia
and
dilated
cardiomyopathy
in
rats
.
To
determine
the
role
of
D
2
in
the
metabolism
of
EA
,
we
challenged
wild-
type
and
D
2
deficient
mice
(
D
2
KO
)
with
an
enriched
EA
diet
.
In
D
2
KO
mice
,
dietary
EA
resulted
in
the
rapid
expansion
of
adipose
tissue
,
adipocyte
hypertrophy
,
hepatic
steatosis
,
and
the
loss
of
glycemic
control
.
However
,
D
2
had
no
impact
on
the
development
of
obesity
phenotypes
in
two
models
of
diet-induced
obesity
.
Although
there
was
a
significant
increase
in
EA
in
liver
of
D
2
KO
mice
,
it
constituted
less
than
2
%
of
all
fatty
acids
.
Metabolites
of
EA
(
20
:
1
,
18
:
1
,
and
16
:
1
)
were
elevated
,
particularly
18
:
1
,
which
accounted
for
50
%
of
all
fatty
acids
.
These
data
indicate
that
the
failure
to
metabolize
EA
in
adipose
results
in
hepatic
metabolism
of
EA
,
disruption
of
the
fatty
acid
profile
,
and
the
development
of
obesity
and
reveal
an
essential
role
for
D
2
in
the
protection
from
dietary
EA
.
Diseases
Validation
Diseases presenting
"deficient mice"
symptom
achondroplasia
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cystinuria
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
junctional epidermolysis bullosa
kallmann syndrome
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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