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Association of LETM1 and MRPL36 contributes to the regulation of mitochondrial ATP production and necrotic cell death.
[wolf-hirschhorn syndrome]
Leucine
zipper
/
EF
hand
-containing
transmembrane-
1
(
LETM
1
)
is
a
mitochondrial
inner
membrane
protein
that
was
first
identified
in
Wolf-
Hirschhorn
syndrome
,
and
was
deleted
in
nearly
all
patients
with
the
syndrome
.
LETM
1
encodes
for
the
human
homologue
of
yeast
Mdm
38
p
,
which
is
a
mitochondria-shaping
protein
of
unclear
function
.
Here
,
we
describe
LETM
1
-
mediated
regulation
of
mitochondrial
ATP
production
and
biogenesis
.
We
show
that
LETM
1
overexpression
can
induce
necrotic
cell
death
in
HeLa
cells
,
in
which
LETM
1
reduces
mitochondrial
biogenesis
and
ATP
production
.
LETM
1
acts
as
an
anchor
protein
and
associates
with
mitochondrial
ribosome
protein
L
36
.
Adenovirus-mediated
overexpression
of
LETM
1
reduced
mitochondrial
mass
and
expression
of
many
mitochondrial
proteins
.
LETM
1
-
mediated
inhibition
of
mitochondrial
biogenesis
enhanced
glycolytic
ATP
supply
and
activated
protein
kinase
B
activity
and
cell
survival
signaling
.
The
expression
levels
of
LETM
1
were
significantly
increased
in
multiple
human
cancer
tissues
compared
with
normals
.
These
data
suggest
that
LETM
1
serves
as
an
anchor
protein
for
complex
formation
with
the
mitochondrial
ribosome
and
regulates
mitochondrial
biogenesis
.
The
increased
expression
of
LETM
1
in
human
cancer
suggests
that
dysregulation
of
LETM
1
is
a
key
feature
of
tumorigenesis
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated