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Keratin disorders: from gene to therapy.
[epidermolysis bullosa simplex]
The
term
'
keratin
'
is
generally
accepted
to
refer
to
the
epithelial
keratins
of
soft
and
hard
epithelial
tissues
such
as
:
skin
,
cornea
,
hair
and
nail
.
Since
their
initial
characterization
,
the
total
number
of
mammalian
keratins
has
increased
to
54
,
including
28
type
I
and
26
type
II
keratins
.
Inherited
defects
that
weaken
the
keratin
load-bearing
cytoskeleton
produce
phenotypes
characterized
by
fragility
of
specific
subsets
of
epithelial
tissues
.
The
vast
majority
of
mutations
are
either
missense
or
small
in
-frame
in
-
del
mutations
and
disease
severity
often
relates
to
the
position
of
the
mutation
in
relation
to
the
rod
domain
.
The
most
complex
epithelial
structure
in
humans
,
the
hair
follicle
,
contains
trichocyte
(
'
hard
'
)
keratin
filaments
and
approximately
half
of
the
54
functional
human
keratin
genes
are
trichocyte
keratins
.
So
far
,
only
four
of
these
have
been
linked
to
human
genetic
disorders
:
monilethrix
,
hair-
nail
ectodermal
dysplasia
,
pseudofolliculitis
barbae
and
woolly
hair
,
while
the
majority
of
the
hair
keratins
remain
unlinked
to
human
phenotypes
.
Keratin
disorders
are
a
classical
group
of
dominant-negative
genetic
disorders
,
representing
a
large
healthcare
burden
,
especially
within
dermatology
.
Recent
advances
in
RNA
interference
therapeutics
,
particularly
in
the
form
of
small
-interfering
RNAs
,
represent
a
potential
therapy
route
for
keratin
disorders
through
selectively
silencing
the
mutant
allele
.
To
date
,
mutant-
specific
siRNAs
for
epidermolysis
bullosa
simplex
,
pachyonychia
congenita
and
Messmann
epithelial
corneal
dystrophy
-causing
missense
mutations
have
been
developed
and
proven
to
have
unprecedented
specificity
and
potency
.
This
could
herald
the
dawn
of
a
new
era
in
translational
medical
research
applied
to
genetics
.
Diseases
Validation
Diseases presenting
"complex epithelial structure in humans"
symptom
epidermolysis bullosa simplex
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