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DRPLA: recent advances in research using transgenic mouse models.
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Dentatorubral-pallidoluysian
atrophy
(
DRPLA
)
is
one
form
of
trinucleotide
repeat
disease
,
which
has
a
high
prevalence
rate
in
the
Japanese
population
.
Our
group
established
DRPLA
transgenic
mice
harboring
a
single
copy
of
a
full-length
human
mutant
DRPLA
gene
with
76
CAG
repeats
(
Q
76
mice
)
.
Q
76
mice
showed
no
obvious
neurological
phenotype
but
showed
somatic
and
intergenerational
instabilities
of
CAG
repeats
which
closely
resembled
those
in
human
DRPLA
.
During
the
breeding
of
Q
76
mice
,
we
serendipitously
generated
an
additional
strain
with
129
repeats
by
"
en
masse
"
expansion
of
CAG
repeats
(
Q
129
mice
)
.
These
two
substrains
are
ideal
models
for
the
investigation
of
CAG-repeat-dependent
pathogenesis
of
DRPLA
,
because
they
have
the
same
genetic
background
except
for
the
length
of
CAG
repeats
.
Q
129
mice
showed
a
marked
neurological
phenotype
and
massive
neuronal
intranuclear
accumulation
(
NIA
)
of
mutant
proteins
,
but
showed
no
obvious
neuronal
loss
.
Through
detailed
investigations
of
these
two
substrains
,
we
believe
that
"
neuronal
dysfunction
without
neuronal
loss
"
is
the
key
concept
in
the
pathogenesis
of
DRPLA
.
