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Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
[cowden syndrome]
Cowden
syndrome
results
from
germline
mutations
in
the
gene
for
phosphatase
and
tensin
homologue
deleted
on
chromosome
10
(
PTEN
)
and
from
variants
in
succinate
dehydrogenase
B
and
D
subunits
.
We
hypothesized
that
succinate
accumulation
may
be
common
among
individuals
with
SDH
variants
/
mutations
and
those
with
PTEN
mutations
.
U
rine
and
blood
were
collected
from
individuals
meeting
full
or
partial
Cowden
syndrome
diagnostic
criteria
or
those
with
paraganglioma
(
PGL
)
or
a
known
susceptibility
paraganglioma
-associated
gene
mutation
,
and
succinate
was
measured
.
PTEN
,
SDHB
,
SDHC
,
and
SDHD
genes
were
sequenced
from
genomic
DNA
.
Elevated
plasma
succinate
was
observed
in
13
/
21
(
62
%
)
individuals
with
germline
PTEN
,
SDHB
,
or
SDHD
mutations
as
compared
with
5
/
32
(
16
%
)
controls
(
P
<
0
.
001
)
,
in
10
/
15
(
67
%
)
individuals
with
pathogenic
PTEN
mutations
but
in
<
20
%
of
mutation
-negative
individuals
meeting
identical
criteria
,
and
in
individuals
with
mutations
in
SDHB
(
1
/
1
,
100
%
)
and
SDHD
(
2
/
5
,
40
%
)
.
Our
data
suggest
that
mutations
in
PTEN
,
SDHB
,
and
SDHD
reduce
catalytic
activity
of
succinate
dehydrogenase
,
resulting
in
succinate
accumulation
,
and
identify
a
common
biochemical
alteration
in
these
two
patient
populations
(
PTEN
and
SDHx
mutation
positive
individuals
)
.
Plasma
organic
acid
analysis
may
provide
an
effective
and
inexpensive
screening
method
to
determine
when
more
expensive
gene
sequencing
of
PTEN
and
SDH
genes
is
warranted
.
Diseases
Validation
Diseases presenting
"elevated plasma succinate"
symptom
cowden syndrome
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