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Polyglutamine diseases: emerging concepts in pathogenesis and therapy.
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Polyglutamine
diseases
are
a
family
of
neurodegenerative
conditions
that
each
derive
from
a
CAG
triplet
repeat
expansion
in
a
specific
gene
.
This
produces
a
pathogenic
protein
that
contains
a
critically
expanded
tract
of
glutamines
.
These
prototypical
protein
misfolding
disorders
include
Huntington
disease
,
spinobulbar
muscular
atrophy
,
dentatorubral-pallidoluysian
atrophy
and
several
spinocerebellar
ataxias
.
This
article
reviews
the
emerging
concepts
in
pathogenesis
and
therapy
.
Key
ideas
include
the
role
of
proteolytic
cleavage
,
the
importance
of
conformational
change
in
the
pathogenic
proteins
,
the
role
of
protein
aggregation
and
the
importance
of
transcriptional
and
metabolic
disturbances
.
The
relative
role
of
functional
perturbation
in
a
target
protein
induced
by
a
polyglutamine
expansion
is
also
discussed
.
Therapeutic
strategies
include
counteracting
cellular
perturbations
and
direct
targeting
of
polyglutamine
protein
expression
,
cleavage
or
conformation
.
