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| Schipperke
Health |
| Genetic Disorder -
MPS IIIB |
Note
Update:
SCA
Health
and
Genetics
Committee
re
MPSIIIB
(10/31/04)
There
have
been
a
few
errors
in
test
results.
They
are
most
probably
due
to
human
error
on
the
part
of
either
the
sample
gatherer
or
the
lab,
but
we
can
not
pin
point
where
the
problem
was.
The
test
itself
is
very
accurate.
That
being
said
we
would
recommend:
All
breeding
animals
should
be
tested.
Do
not
rely
on
normal
by
pedigree.
If
you
are
breeding
known
carriers:
Normal
dogs
bred
to
carriers
should
be
retested
to
be
sure
they
are
normal.
Puppies
from
known
carriers
should
be
tested.
If
anyone
notices
discrepancies
in
their
test
results,
it
would
help
if
you
would
send
details
to
Shirley
Quillen,
Chairman
of
the
Health
and
Genetics
Committee
at
imaskip@earthlink.net
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Mucopolysaccharidosis
type IIIB
(MPS IIIB)
in Schipperkes
and DNA
testing
This
recently
identified
genetic
disease
is present
in Schipperkes
and in
humans.
When a
dog is
affected
it is
ultimately
lethal.
The gene
has been
identified
in many
of our
dogs in
the current
population.
It is
imperative
that we
learn
about
this disease
and test
all dogs
prior
to using
them for
breeding
from this
point
forward.
Read the
information
below
furnished
by Dr.
Ellinwood,
the researcher
studying
this disease.
MPS IIIB
Testing
Kits can
be requested
by calling
(215)
898-8894.
For instructions,
see the
Submission
Form.
It is
by permission
of and
request
from the
researcher
Dr. Matthew
Ellinwood
that this
information
be widely
disseminated
among
Schipperke
fanciers
and breeders.
If you
are a
breeder
and find
that you
have an
unplaced
affected
pup, or
if you
are an
owner
of an
affected
dog, and
you would
like to
know how
you can
help to
further
efforts
to find
a treatment
and a
cure for
this devastating
disease,
we encourage
you to
contact
Lisa G.
Sarvas
DVM via
FAX (215-573-2162),
or regular
mail (Dr.
N.M. Ellinwood,
3900 Delancey
Street,
Philadelphia,
PA 19104-6010.
Summary
Detail
|
Summary:
What
is
Mucopolysaccharidosis
type
IIIB
(MPS
IIIB).
The
disease
MPS
IIIB,
also
known
as
Sanfilippo
syndrome
type
IIIB,
is
an
inherited
disease
classified
as
a
lysosomal
storage
disease
(LSD).
Lysosomes
are
"bags"
within
cells
of
the
body,
filled
with
special
enzymes
which
disassemble
molecules
in
an
orderly
manner.
If
one
of
the
enzymes
is
missing,
due
to
mutations
in
the
gene
for
that
enzyme,
the
disassembly
stops,
and
undegraded
molecules
accumulate
in
lysosomes
(hence
the
term
LSD),
and
the
cells
become
sick
or
die,
which
leads
to
disease.
The
compound
accumulating
in
MPS
IIIB
is
heparan
sulfate
and
the
affected
enzyme
is
N-acetyl-a-D-glucoseaminidase
(NAGLU).
What
are
the
symptoms
of
MPS
IIIB.
The
clinical
signs
in
the
dogs
are
related
to
brain
disease,
appear
between
2-4
years
of
age,
and
include
tremor,
and
difficulty
in
balancing,
walking,
and
negotiating
obstacles
such
as
stairs.
The
disease
is
progressive,
and
owners
have
chosen
euthanasia,
usually
1-2
years
after
recognizing
clinical
signs.
How
is
MPS
IIIB
inherited?
The
inheritance
pattern
of
MPS
IIIB
is
autosomal
recessive.
Both
males
and
females
are
equally
capable
of
having
the
disease,
or
of
being
carriers.
Carriers
are
absolutely
normal,
and
will
not
have
signs
of
the
disease.
Is
there
a
DNA
test
and
if
so
what
do
the
DNA
test
results
mean?.
We
have
a
mutation
based
test
for
the
NAGLU
mutation
in
the
Schipperke
breed.
Testing
offered
through
at
the
University
of
Pennsylvania
reports
a
result
of
affected,
carrier,
or
normal.
How
do
I
go
about
getting
my
dog
tested?
See
the
submission
form,
and
attached
instructions
and
check
list.
Who
receives
notification
of
the
DNA
test
results?
Results
are
confidential
and
are
released
only
to
the
individual
that
submitted
the
sample.
How
common
is
this
disease
and
how
long
has
it
been
in
the
Schipperke
breed?
The
mutant
gene
may
be
as
far
back
as
eleven
generations,
and
hence
may
be
very
broadly
distributed
in
the
Schipperke
population.
The
carrier
frequency
is
unknown,
but
judging
from
similar
diseases
in
cattle,
it
may
be
as
high
as
15%.
If
the
mutation
is
so
old,
why
has
this
not
been
seen
before?
Probably
this
disease
has
been
seen
before,
but
was
not
recognized.
Factors
contributing
to
this
including
a
low
frequency
of
cases,
non-specific
clinical
signs,
an
adult
onset,
a
lack
of
post-mortem
examinations,
and
very
limited
knowledge
among
medical
professionals.
Who
should
have
their
animals
tested?
Every
breeding
animal
should
be
DNA
tested
for
this
disease.
All
pups
that
are
waiting
to
be
placed
in
permanent
homes
should
be
considered
for
testing,
to
spare
their
new
owners
a
great
deal
of
anguish
and
anxiety.
When
can
I
test
my
dog
and
how
much
does
testing
cost?
Testing
begins
April
1,
2003,
and
costs
$75/dog.
A
price
of
$50/per
is
in
effect
until
June
1,
2003.
How
soon
can
I
expect
to
get
results
back?
Results
will
be
available
in
3-4
weeks
from
the
time
of
receipt
of
samples.
What
do
I
do
if
I
have
pups
waiting
to
go
to
homes?
Priority
testing
to
ensure
that
pups
waiting
for
placement
are
not
affected
will
be
made.
See
the
details
below.
Do
we
provide
"rush"
testing
on
samples,
bulk
prices
or
special
litter
prices?
Rush
testing
is
not
available.
There
are
also
no
bulk
submission
or
litter
submission
price
adjustments.
What
samples
is
the
test
run
on?
The
test
can
be
run
on
either
1-2
ml
of
EDTA
blood
(lavender
topped
tube),
or
on
cheek
swabs.
Detail:
What
is
MPS
IIIB
The
disease
MPS
IIIB,
also
known
as
Sanfilippo
syndrome
type
IIIB,
is
an
inherited
disease.
It
is
one
of
a
group
of
eleven
different
genetic
diseases
known
as
the
MPS
disorders.
The
MPS
disorders
are
all
classified
as
lysosomal
storage
diseases.
Other
better-known
lysosomal
storage
diseases
that
occur
in
humans
include
Tay-Sachs
disease
and
Gaucher
disease.
The
feature
that
unites
lysosomal
storage
diseases
is
that
they
have
abnormal
lysosomal
function.
The
lysosome
is
an
important
structure
of
virtually
all
cells
in
the
body,
and
serves
as
the
"garbage
disposal"
of
the
cell.
In
humans
MPS
IIIB
is
seen
in
approximately
one
out
of
73,000
live
births.
The
lysosome
is
essentially
a
"bag"
within
cells
of
the
body,
which
is
filled
with
special
enzymes.
The
lysosome's
function
is
to
disassemble
large
molecules
of
a
cell
that
need
to
be
recycled
or
disposed
of.
The
way
in
which
molecules
are
dissembled
in
the
lysosomes
involves
a
series
of
steps,
something
like
an
automobile
assembly
line,
but
in
reverse.
In
place
of
the
"disassembly"
line
workers
who
each
do
one
specific
job,
the
lysosome
employs
many
different
enzymes,
which
again
have
just
one
job
each.
These
enzymes,
when
all
are
present,
disassemble
molecules
in
an
orderly
and
efficient
manner.
When
one
of
the
enzymes
is
missing,
due
to
mutations
in
all
copies
of
the
gene
for
that
specific
enzyme,
the
orderly
processes
of
disassembly
stops,
and
large
undegraded
molecules
begin
to
accumulate
in
the
lysosomes,
hence
the
name
lysosomal
storage
disease.
Eventually
the
lysosomes
of
a
cell
become
so
large,
that
it
interferes
with
the
normal
job
of
a
cell,
and
the
cells
become
sick
or
die,
which
leads
to
the
clinical
signs
and
symptoms
of
the
disease.
In
MPS
IIIB
the
compound
which
is
stored
is
called
heparan
sulfate.
Heparan
sulfate
is
one
of
a
number
of
compounds
known
as
glycosaminoglycans
(GAGs),
which
are
themselves
long
strings
of
chemically
modified
sugar
molecules
important
in
structures
like
bone
and
cartilage
and
in
the
communication
machinery
betweens
cells
in
the
body,
especially
in
the
brain.
The
term
mucopolysaccharide
is
actually
on
old-fashioned
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