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Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
an
inherited
disorder
of
heme
biosynthesis
caused
by
partial
ferrochelatase
deficiency
,
resulting
in
protoporphyrin
IX
(
PPIX
)
accumulation
in
erythrocytes
,
responsible
for
skin
photosensitivity
.
In
some
EPP
patients
,
the
development
of
cholestatic
liver
injury
due
to
PPIX
accumulation
can
lead
to
hepatic
failure
.
In
adult
EPP
mice
,
bone
marrow
transplantation
(
BMT
)
leads
to
skin
photosensitivity
correction
but
fails
to
reverse
liver
damages
,
probably
because
of
the
irreversible
nature
of
liver
fibrosis
.
Our
aim
was
to
determine
the
time
course
of
liver
disease
progression
in
EPP
mice
and
to
evaluate
the
protective
effect
of
BMT
into
neonates
.
We
studied
the
development
of
liver
disease
from
birth
in
EPP
mice
,
in
relation
with
erythroid
and
hepatic
PPIX
accumulation
.
To
prevent
the
development
of
liver
disease
,
BMT
was
performed
into
newborn
mice
using
a
novel
busulfan-mediated
preconditioning
assay
.
We
showed
that
hepatic
PPIX
accumulates
during
the
first
2
weeks
and
correlates
with
the
onset
of
a
progressive
liver
fibrosis
in
12
-
day
-old
EPP
mice
.
Transplantation
of
normal
congenic
hematopoietic
stem
cells
into
EPP
neonates
led
to
long
-term
donor
hematopoiesis
recovery
.
A
full
correction
of
erythroid
PPIX
accumulation
and
skin
photosensitivity
was
obtained
.
Furthermore
,
five
months
after
neonatal
BMT
,
liver
damage
was
almost
completely
prevented
.
We
demonstrated
for
the
first
time
that
BMT
could
be
successfully
used
to
prevent
liver
disease
in
EPP
mice
and
suggested
that
BMT
would
be
an
attractive
therapeutic
option
to
prevent
severe
liver
dysfunction
in
EPP
patients
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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