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Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome.
[wolf-hirschhorn syndrome]
Mitochondrial
metabolism
,
respiration
,
and
ATP
production
necessitate
ion
transport
across
the
inner
mitochondrial
membrane
.
Leucine
zipper-
EF-
hand
containing
transmembrane
protein
1
(
Letm
1
)
,
one
of
the
genes
deleted
in
Wolf-
Hirschhorn
syndrome
,
encodes
a
putative
mitochondrial
Ca
(
2
+
)
/
H
(
+
)
antiporter
.
Cellular
Letm
1
knockdown
reduced
Ca
(
2
+
)
mito
uptake
,
H
(
+
)
mito
extrusion
and
impaired
mitochondrial
ATP
generation
capacity
.
Homozygous
deletion
of
Letm
1
in
mice
resulted
in
embryonic
lethality
before
day
6
.
5
of
embryogenesis
and
~
50
%
of
the
heterozygotes
died
before
day
13
.
5
of
embryogenesis
.
The
surviving
heterozygous
mice
exhibited
altered
glucose
metabolism
,
impaired
control
of
brain
ATP
levels
,
and
increased
seizure
activity
.
We
conclude
that
loss
of
Letm
1
contributes
to
the
pathology
of
Wolf-
Hirschhorn
syndrome
in
humans
and
may
contribute
to
seizure
phenotypes
by
reducing
glucose
oxidation
and
other
specific
metabolic
alterations
.
Diseases
Validation
Diseases presenting
"other specific metabolic alterations"
symptom
wolf-hirschhorn syndrome
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