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GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
[gm1 gangliosidosis]
Alterations
in
GLB
1
,
the
gene
coding
for
acid
beta
-
D-
galactosidase
(
beta
-
Gal
)
,
can
result
in
GM
1
gangliosidosis
(
GM
1
)
,
a
neurodegenerative
disorder
,
or
in
Morquio
B
disease
(
MBD
)
,
a
phenotype
with
dysostosis
multiplex
and
normal
central
nervous
system
(
CNS
)
function
.
While
most
MBD
patients
carry
a
common
allele
,
c
.
817
TG
>
CT
(
p
.
W
273
L
)
,
only
few
of
the
>
100
mutations
known
in
GM
1
can
be
related
to
a
certain
phenotype
.
In
25
multiethnic
patients
with
GM
1
or
MBD
,
11
missense
mutations
were
found
as
well
as
one
novel
insertion
and
a
transversion
causing
aberrant
gene
products
.
Except
c
.
602
G
>
A
(
p
.
R
201
H
)
and
two
novel
alleles
,
c
.
592
G
>
T
(
p
.
D
198
Y
)
and
c
.
1189
C
>
G
(
p
.
P
397
A
)
,
all
mutants
resulted
in
significantly
reduced
beta
-
Gal
activities
(
<
10
%
of
normal
)
upon
expression
in
COS
-
1
cells
.
Although
c
.
997
T
>
C
(
p
.
Y
333
H
)
expressed
3
%
of
normal
activity
,
the
mutant
protein
was
localized
in
the
lysosomal-endosomal
compartment
.
A
homozygous
case
presented
with
late
infantile
GM
1
,
while
a
heterozygous
,
juvenile
case
carried
p
.
Y
333
H
together
with
p
.
R
201
H
.
This
allele
,
recently
found
in
homozygous
MBD
,
gives
rise
to
rough
endoplasmic
reticulum
(
RER
)
-
located
beta
-
Gal
precursors
.
Thus
,
unlike
classical
MBD
,
the
phenotype
of
heterozygotes
carrying
p
.
R
201
H
may
rather
be
determined
by
poorly
active
,
properly
transported
products
of
the
counter
allele
than
by
the
mislocalized
p
.
R
201
H
precursors
.
Diseases
Validation
Diseases presenting
"juvenile case"
symptom
gm1 gangliosidosis
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