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Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.
[gm1 gangliosidosis]
GM
1
gangliosidosis
is
a
fatal
,
progressive
neurodegenerative
lysosomal
storage
disease
caused
by
mutations
of
the
β-galactosidase
(
GLB
1
)
gene
.
In
feline
GM
1
gangliosidosis
,
a
pathogenic
mutation
(
c
.
1448
G
>
C
)
of
the
feline
GLB
1
gene
was
identified
in
Siamese
and
Korat
cats
previously
diagnosed
with
the
disease
in
the
USA
and
Italy
,
respectively
.
The
present
study
demonstrated
the
same
mutation
in
a
Siamese
cat
that
had
been
diagnosed
with
GM
1
gangliosidosis
in
Japan
in
the
1960
s
.
The
mutation
was
confirmed
using
DNA
extracted
from
stored
paraffin-embedded
brain
tissue
by
a
direct
sequencing
method
and
a
polymerase
chain
reaction-restriction
fragment
length
polymorphism
assay
.
This
pathogenic
mutation
seems
to
have
been
distributed
around
the
world
.