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The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
[adrenomyeloneuropathy]
The
clinical
course
of
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
of
unexplained
heterogeneity
.
Major
X-
ALD
phenotypes
are
the
progressive
childhood
cerebral
form
(
CCALD
)
with
early
confluent
cerebral
demyelination
and
the
adult-onset
adrenomyeloneuropathy
(
AMN
)
.
Adult
AMN
may
present
with
demyelinated
foci
of
the
CNS
(
adrenoleukomyeloneuropathy
,
ALMN
)
or
without
(
"
pure
"
AMN
)
.
Activated
methionine
is
essential
for
CNS
myelination
,
and
methionine
metabolism
is
important
for
glutathione
synthesis
,
which
may
influence
neurodegeneration
.
Cystathionine
beta
-synthase
(
CBS
)
is
a
key
enzyme
of
methionine
metabolism
.
The
CBS
variant
c
.
844
_
845
ins
68
(
p
.
-
)
may
influence
the
availability
of
activated
methionine
as
well
as
of
glutathione
.
In
this
study
,
we
analyzed
this
variant
in
genomic
DNA
samples
of
86
X-
ALD
patients
.
We
observed
the
allele
carrying
the
insertion
in
12
of
49
patients
without
CNS
demyelination
(
"
pure
"
AMN
)
,
but
in
none
of
the
37
patients
with
CNS
demyelination
(
CCALD
or
ALMN
;
chi
(
2
)
=
10
.
531
;
p
=
0
.
001
)
.
We
conclude
that
the
insertion
allele
of
CBS
c
.
844
_
845
ins
68
protected
X-
ALD
patients
against
CNS
demyelination
in
our
study
sample
.
These
data
suggest
that
the
individual
conditions
in
methionine
metabolism
may
be
a
disease
modifier
of
X-
ALD
.
Since
methionine
metabolism
can
easily
be
influenced
by
vitamin
and
amino
acid
substitution
,
this
observation
could
be
a
basis
of
novel
treatment
strategies
in
this
yet
untreatable
disease
.
(
c
)
2006
Wiley
-
Liss
,
Inc
.
Diseases
Validation
Diseases presenting
"neurodegeneration"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated