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Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria.
[erythropoietic protoporphyria]
Mitoferrin
1
is
1
of
2
homologous
mitochondrial
iron
transporters
and
is
required
for
mitochondrial
iron
delivery
in
developing
erythroid
cells
.
We
show
that
total
deletion
of
Mfrn
1
in
embryos
leads
to
embryonic
lethality
.
Selective
deletion
of
Mfrn
1
in
adult
hematopoietic
tissues
leads
to
severe
anemia
because
of
a
deficit
in
erythroblast
formation
.
Deletion
of
Mfrn
1
in
hepatocytes
has
no
phenotype
or
biochemical
effect
under
normal
conditions
.
In
the
presence
of
increased
porphyrin
synthesis
,
however
,
deletion
of
Mfrn
1
in
hepatocytes
results
in
a
decreased
ability
to
convert
protoporphyrin
IX
into
heme
,
leading
to
protoporphyria
,
cholestasis
,
and
bridging
cirrhosis
.
Our
results
show
that
the
activity
of
mitoferrin
1
is
required
to
manage
an
increase
in
heme
synthesis
.
The
data
also
show
that
alterations
in
heme
synthesis
within
hepatocytes
can
lead
to
protoporphyria
and
hepatotoxicity
.
Diseases
Validation
Diseases presenting
"is required for mitochondrial iron delivery in developing erythroid cells"
symptom
erythropoietic protoporphyria
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