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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
"seizure"
symptom
alexander disease
canavan disease
cohen syndrome
cowden syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
neonatal adrenoleukodystrophy
pendred syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
This symptom has already been validated