Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene.
[pyruvate dehydrogenase deficiency]
In
a
significant
number
of
patients
with
biochemical
evidence
of
a
defect
in
the
E
1
(
pyruvate
dehydrogenase
)
component
of
the
pyruvate
dehydrogenase
complex
,
it
has
not
proved
possible
to
identify
a
mutation
in
the
gene
coding
regions
.
To
assess
the
need
for
more
extensive
genetic
analysis
in
these
patients
and
to
establish
a
test
system
in
which
to
study
the
biochemical
consequences
of
mutations
in
the
E
1
alpha
subunit
gene
(
which
is
responsible
for
the
great
majority
of
defined
cases
of
pyruvate
dehydrogenase
deficiency
)
,
we
have
developed
a
method
to
screen
for
E
1
alpha
gene
defects
based
on
complementation
of
the
enzyme
deficiency
in
transformed
fibroblast
cell
lines
following
transfection
and
expression
of
the
normal
cDNA
.
Using
this
system
,
cell
lines
from
patients
with
a
variety
of
different
defined
mutations
in
the
E
1
alpha
gene
show
restoration
of
enzyme
activity
.
A
number
of
patients
have
been
identified
in
whom
deficient
enzyme
activity
is
not
restored
by
expression
of
the
normal
cDNA
indicating
that
an
alternative
explanation
for
the
enzyme
defect
must
be
sought
.
