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Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.
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Dentatorubral-pallidoluysian
atrophy
(
DRPLA
)
is
caused
by
the
expansion
of
polyglutamine
(
polyQ
)
in
atrophin-
1
(
ATN
1
)
,
also
known
as
DRPLA
protein
.
ATN
1
is
ubiquitously
expressed
in
the
central
nervous
system
(
CNS
)
,
although
selective
regions
of
CNS
are
degenerated
in
DRPLA
,
and
this
selective
neuronal
damage
gives
rise
to
the
specific
clinical
features
of
DRPLA
.
Accumulation
of
mutant
ATN
1
that
carries
an
expanded
polyQ
tract
seems
to
be
the
primary
cause
of
DRPLA
neurodegeneration
,
but
it
is
still
unclear
how
the
accumulation
of
ATN
1
leads
to
neu-rodegeneration
.
Recently
,
cleaved
fragments
of
ATN
1
were
shown
to
accumulate
in
the
disease
models
and
the
brain
tissues
of
patients
with
DRPLA
.
Furthermore
,
proteolytic
processing
of
ATN
1
may
regulate
the
intracellular
localization
of
ATN
1
and
its
fragments
.
Therefore
,
proteolytic
processing
of
ATN
1
may
provide
clues
to
disease
pathogenesis
and
hopefully
aid
in
the
determination
of
molecular
targets
for
effective
therapeutic
approaches
for
DRPLA
.
