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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
[homocystinuria without methylmalonic aciduria]
Methylmalonic
aciduria
(
MMA
)
cobalamin
deficiency
type
C
(
cblC
)
with
homocystinuria
(
MMACHC
)
is
the
most
frequent
genetic
disorder
of
vitamin
B
(
12
)
metabolism
.
The
aim
of
this
work
was
to
identify
the
mutational
spectrum
in
a
cohort
of
cblC-affected
patients
and
the
analysis
of
the
cellular
oxidative
stress
and
apoptosis
processes
,
in
the
presence
or
absence
of
vitamin
B
(
12
)
.
The
mutational
spectrum
includes
nine
previously
described
mutations
:
c
.
3
G
>
A
(
p
.
M
1
L
)
,
c
.
217
C
>
T
(
p
.
R
73
X
)
,
c
.
271
dupA
(
p
.
R
91
KfsX
14
)
,
c
.
331
C
>
T
(
p
.
R
111
X
)
,
c
.
394
C
>
T
(
p
.
R
132
X
)
,
c
.
457
C
>
T
(
p
.
R
153
X
)
,
c
.
481
C
>
T
(
p
.
R
161
X
)
,
c
.
565
C
>
A
(
p
.
R
189
S
)
,
and
c
.
615
C
>
G
(
p
.
Y
205
X
)
,
and
two
novel
changes
,
c
.
90
G
>
A
(
p
.
W
30
X
)
and
c
.
81
+
2
T
>
G
(
IVS
1
+
2
T
>
G
)
.
The
most
frequent
change
was
the
known
c
.
271
dupA
mutation
,
which
accounts
for
85
%
of
the
mutant
alleles
characterized
in
this
cohort
of
patients
.
Owing
to
its
high
frequency
,
a
real-time
PCR
and
subsequent
high
-resolution
melting
(
HRM
)
analysis
for
this
mutation
has
been
established
for
diagnostic
purposes
.
All
cell
lines
studied
presented
a
significant
increase
of
intracellular
reactive
oxygen
species
(
ROS
)
content
,
and
also
a
high
rate
of
apoptosis
,
suggesting
that
elevated
ROS
levels
might
induce
apoptosis
in
cblC
patients
.
In
addition
,
ROS
levels
decreased
in
hydroxocobalamin-incubated
cells
,
indicating
that
cobalamin
might
either
directly
or
indirectly
act
as
a
scavenger
of
ROS
.
ROS
production
might
be
considered
as
a
phenotypic
modifier
in
cblC
patients
,
and
cobalamin
supplementation
or
additional
antioxidant
drugs
might
suppress
apoptosis
and
prevent
cellular
damage
in
these
patients
.
Diseases
Validation
Diseases presenting
"previously described mutations"
symptom
erythropoietic protoporphyria
fabry disease
homocystinuria without methylmalonic aciduria
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