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Feasibility of using cryopreserved lymphoblastoid cells to diagnose some lysosomal storage diseases.
[gm1 gangliosidosis]
The
Epstein-
Barr
virus
(
EBV
)
is
utilized
as
a
tool
in
the
study
of
cellular
biology
because
of
its
capacity
to
transform
B-
lymphocytes
.
For
this
reason
,
EBV
is
used
in
conservation
of
human
B-
lymphocytes
for
long
periods
for
subsequent
evaluation
of
lysosomal
hydrolase
activity
.
Lymphoblastoid
cell
lines
have
several
advantages
for
use
over
other
cell
types
,
such
as
prompt
availability
and
possibility
to
develop
,
characterize
and
standardize
cell
banks
,
to
test
effects
of
promising
pharmaceutical
reagents
.
The
study
below
presents
biochemical
data
that
demonstrate
validity
of
lymphoblastoid
cell
lines
for
diagnosis
of
GM
1
-
gangliosidosis
,
Gaucher
,
Fabry
and
Pompe
diseases
and
mucopolysaccharidosis
type
I
.
Cultures
were
prepared
from
peripheral
blood
,
collected
from
25
normal
subjects
and
13
affected
individuals
.
Enzyme
activities
and
immunohistochemistry
(
IHC
)
were
measured
.
Activities
of
enzymes
beta
-galactosidase
,
beta
-glucosidase
,
alpha-iduronidase
,
alpha-galactosidase
and
alpha-glucosidase
were
measured
before
and
after
cryopreservation
for
180
days
.
Enzymatic
activity
was
measured
when
transformation
was
confirmed
by
IHC
.
We
observed
some
significant
alterations
in
enzymatic
activity
of
non-cultured
cells
when
compared
to
others
that
had
been
cultured
for
12
days
and
kept
frozen
for
180
days
.
However
,
these
alterations
did
not
invalidate
use
of
the
technology
of
transformation
of
lymphoblastoid
cell
lines
with
EBV
,
to
diagnose
the
diseases
mentioned
above
,
in
view
of
the
fact
that
the
cultured
cells
,
before
and
after
freezing
,
demonstrated
similar
enzymatic
activities
.
Diseases
Validation
Diseases presenting
"similar enzymatic activities"
symptom
gm1 gangliosidosis
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