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A coherent organization of differentiation proteins is required to maintain an appropriate thyroid function in the Pendred thyroid.
[pendred syndrome]
Pendred
syndrome
is
caused
by
mutations
in
the
gene
coding
for
pendrin
,
an
apical
Cl-
/
I
-
exchanger
.
To
analyze
intrathyroidal
compensatory
mechanisms
when
pendrin
is
lacking
,
we
investigated
the
thyroid
of
a
patient
with
Pendred
syndrome
.
The
expression
of
proteins
involved
in
thyroid
hormone
synthesis
,
markers
of
oxidative
stress
(
OS
)
,
cell
proliferation
,
apoptosis
,
and
antioxidant
enzymes
were
analyzed
.
Three
morphological
zones
were
identified
:
nearly
normal
follicles
with
iodine-rich
thyroglobulin
in
the
colloid
(
zone
1
.
a
)
,
small
follicles
without
iodine-rich
thyroglobulin
in
lumina
(
zone
1
.
b
)
,
and
destroyed
follicles
(
zone
2
)
.
In
zones
1
.
a
,
dual
oxidase
(
Duox
)
and
thyroid
peroxidase
(
TPO
)
were
localized
at
the
apical
pole
,
OS
and
cell
apoptosis
were
absent
,
but
ClC-
5
expression
was
strongly
increased
.
In
zones
1
.
b
,
Duox
and
TPO
were
aberrantly
present
and
increased
in
the
cytosol
and
associated
with
high
OS
,
apoptosis
,
cell
proliferation
,
and
increased
expression
of
peroxiredoxin-
5
,
catalase
,
and
dehalogenase-
1
but
moderate
ClC-
5
expression
.
In
conclusion
,
the
absence
of
pendrin
is
accompanied
by
increased
ClC-
5
expression
that
may
transiently
compensate
for
apical
iodide
efflux
.
In
more
affected
follicles
,
Duox
and
TPO
are
relocated
in
the
cytosol
,
leading
to
abnormal
intracellular
thyroid
hormone
synthesis
,
which
results
in
cell
destruction
presumably
because
intracellular
OS
can
not
be
buffered
by
antioxidant
defenses
.
Diseases
Validation
Diseases presenting
"apoptosis"
symptom
22q11.2 deletion syndrome
hodgkin lymphoma, classical
pendred syndrome
primary effusion lymphoma
systemic capillary leak syndrome
waldenström macroglobulinemia
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