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RESEARCEERSDISCOVER GENE UUTATION IN GAUCHERDISEASE;
ITAKES SCREEIIING POSSIBLE TO DETERITTINE
COUPIJESAT RISK
LA JOLLA, CALfF. 6:30 p.m.
screening
disease
for
risk
(TsRr)
rnstitute
for
with
having
the
a baby with
discovery
of
a gene mutation
to
the
at
Gaucher
The scripps
ptays
that
a role
in
disorder.
The research
December,
of
at
may now be possibre
Research
the
couples
(Eastern Tirne) Nov. 3O, 1991
leading
L99L issue
of
the
discovery
Proceedincrs
is
of
described
the
in
National
the
Academy
Sciences.
Lead author
Department
Ernest
of Morecular
Beutler,
M,p.,
chairman
and Experimentar
Gaucher disease
is
caused by a deficiency
the
of
cellular
elimination
research
this
had identified
disease
potential
of
reliabre
until
could
in
the
Jewish
producing
most of
of
of
the
population,
offspring
the
Medicine,
waste products.
75 percent
with
remaining
of
TSRI
notes
that
an enzyme needed for
Although
previous
genes causing
mutant
screening
the
the
couples
disorder
25 percent,
for
the
was not
of mutant
genes
be found.
some 15r000 Ameri-cans of Ashkenazic
Jewish
descent
Manifestations
are
vary
estimated
to
(Eastern
have inherited
from a rapidly
MORE
fatar
European)
Gaucher disease.
disease,
with
death
PAGE 2
occurring
it
is
in
the
quite
diagnosed
severe
cases
year
first
bone abnormalities,
accounts
is
and this
prevents
play
previousry
the
not
in
the
DNA, the
appearing
L226G, the
patient
with
typically
the
84GG alone
the
resulting
Just
for
Beutler
to
detect
and receive
couples
Tay-sachs
genetic
the
DNA
B4GG gene appears
When a
with
found
found
in
a
symptoms often
84GG gene,
L44Bc, is
or
along
a
with
the
form of Gaucher disease,
childhood.
after
in
The
Although
the
no cases
TSRI researchers
be fatar
to
the
of
believe
fetus
birth.
today
routinely
disease,
they
counseling
about
have DNA
will
now be able
to
Gaucher disease,
says.
For example,
Gaucher disease
child
shortly
says.
molecule
Lz26G is
rniId,
wourd most likely
as most Jewish
examination
test
or
caIled
unidentified
Beutler
the
When the
has a more severe
disease
that
usuarry
age.
early
gene,
needed enzyme.
gene rabeled
is
to
painful
of Gaucher disease.
one calred
in
previousry
the
have been identified,
pregnancy
during
severity
mutant
guanine
indicated
rniddle
identified
of
that
disorders.
patients,
an extra
mutant
until
the
Jewish
formation
disease
previously
onset
of
arso
identified
patient's
in
so benign
and livers,
a singre
most of
an insertion
a role
spleens
identifies
for
TSRr researchers
to
a disorder
Symptoms in moderate
enlarged
mutations
mutation
to
and even neurologic
The TSRr discovery
Gaucher disease
life,
by accident.
can include
84GG, which
of
having
the
if
are
both
found
disease
the
to
male and female
be carriers,
would be one in
MORE
the
four,
screened
chances
for
of
he notes.
their
rf
onry
PAGE 3
one member of
risk
of
the
Gaucher disease
activity
is
normal
Although
it
would be one in
for
couples
needed for
cost
at
of
there
is
patients
severe
than
an overlap
laboratory.
a detectable
rnight
prediction
with
those
the
with
the
that
mild
mutation
mutations
trying
to
g5O,OOO
the
patient
counseling
research
is
severity.
usually
have less
such as 84GG or
groups, tt he says.
This
enzyme
says.
further
L226G mutation
disease.
than
genetic
of disease
if
somewhere around
Beutler
of
the
mutation.
a Gaucher disease
a few patients
while
cost
less
benefits
notes
between the
and we're
Additional
National
patients
have milder
counseling
progran
the
Beutler
who have onry
mutation
the
rj-sk,
disease,
without
treating
about
more precise
disease
4,OOO, and less
enzyme therapy,
optimistic
f'Although
severe
parent
the
currently-available
While
have a gene mutation,
to
would be significantly
$8001000 a year
with
in
in
was found
a DNA screening
$75 per person,
to
couple
L448C,
rrThus, some
may have reratively
who carry
produces
address
thj-s
article
in
a more severe
difficurties
with
further
in
research
tt
authors
Academy of
of
the
Science
are Terri
Sorge, M.D. i and Carol West.
###
the
eelbart;
Proceedings
Wanda Kuhl;
of
the
Joseph