Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease.
[canavan disease]
Canavan
disease
is
a
fatal
neurological
disease
without
any
effective
treatments
to
slow
the
relentless
progress
of
this
disorder
.
Enzyme
replacement
therapy
has
been
used
effectively
to
treat
a
number
of
metabolic
disorders
,
but
the
presence
of
the
blood
-
brain
-barrier
presents
an
additional
challenge
in
the
treatment
of
neurological
disorders
.
Studies
have
begun
with
the
aim
of
establishing
a
treatment
protocol
that
can
effectively
replace
the
defective
enzyme
in
Canavan
disease
patients
.
The
human
enzyme
,
aspartoacylase
,
has
been
cloned
,
expressed
and
purified
,
and
the
surface
lysyl
groups
modified
through
PEGylation
.
Fully
active
modified
enzymes
were
administered
to
mice
that
are
defective
in
this
enzyme
and
that
show
many
of
the
symptoms
of
Canavan
disease
.
Statistically
significant
increases
in
brain
enzyme
activity
levels
have
been
achieved
in
this
animal
model
,
as
well
as
decreases
in
the
elevated
substrate
levels
that
mimic
those
found
in
Canavan
disease
patients
.
These
results
demonstrate
that
the
modified
enzyme
is
gaining
access
to
the
brain
and
functions
to
correct
this
metabolic
defect
.
The
stage
is
now
set
for
a
long
term
study
to
optimize
this
enzyme
replacement
approach
for
the
development
of
a
treatment
protocol
.
