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Polyglutamine (PolyQ) diseases: genetics to treatments.
[]
The
polyglutamine
(
polyQ
)
diseases
are
a
group
of
neurodegenerative
disorders
caused
by
expanded
cytosine-adenine-guanine
(
CAG
)
repeats
encoding
a
long
polyQ
tract
in
the
respective
proteins
.
To
date
,
a
total
of
nine
polyQ
disorders
have
been
described
:
six
spinocerebellar
ataxias
(
SCA
)
types
1
,
2
,
6
,
7
,
17
;
Machado-
Joseph
disease
(
MJD
/
SCA
3
)
;
Huntington
's
disease
(
HD
)
;
dentatorubral
pallidoluysian
atrophy
(
DRPLA
)
;
and
spinal
and
bulbar
muscular
atrophy
,
X-
linked
1
(
SMAX
1
/
SBMA
)
.
PolyQ
diseases
are
characterized
by
the
pathological
expansion
of
CAG
trinucleotide
repeat
in
the
translated
region
of
unrelated
genes
.
The
translated
polyQ
is
aggregated
in
the
degenerated
neurons
leading
to
the
dysfunction
and
degeneration
of
specific
neuronal
subpopulations
.
Although
animal
models
of
polyQ
disease
for
understanding
human
pathology
and
accessing
disease-modifying
therapies
in
neurodegenerative
diseases
are
available
,
there
is
neither
a
cure
nor
prevention
for
these
diseases
,
and
only
symptomatic
treatments
for
polyQ
diseases
currently
exist
.
Long
-term
pharmacological
treatment
is
so
far
disappointing
,
probably
due
to
unwanted
complications
and
decreasing
drug
efficacy
.
Cellular
transplantation
of
stem
cells
may
provide
promising
therapeutic
avenues
for
restoration
of
the
functions
of
degenerative
and
/
or
damaged
neurons
in
polyQ
diseases
.
