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Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre syndrome families with identification of a new mutation.
[papillon-lefèvre syndrome]
We
have
previously
reported
oxidative
and
fatty
acids
disturbances
in
one
Papillon-
Lefèvre
syndrome
(
PLS
)
family
.
This
Mendelian
condition
characterized
by
palmar
plantar
keratosis
and
severe
aggressive
periodontitis
,
is
caused
by
mutations
in
the
cathepsin
C
(
CTSC
)
gene
.
In
this
study
,
we
have
analysed
two
further
unrelated
PLS
families
to
confirm
this
association
.
Mutations
were
identified
by
direct
sequencing
of
CTSC
.
Biochemical
analyses
were
performed
in
probands
and
their
relatives
in
order
to
determine
plasma
levels
of
vitamin
E
,
CoQ
10
,
lipid
hydroperoxides
(
HP
)
and
fatty
acid
patterns
.
Pathogenic
CTSC
mutations
were
identified
in
both
families
including
a
new
mutation
(
c
504
C
>
G
)
.
Both
probands
showed
low
levels
of
vitamin
E
and
CoQ
10
,
and
high
levels
of
lipid
HP
,
and
also
very
low
levels
of
docohexaenoic
acid
.
The
previously
reported
oxidative
and
fatty
acids
disturbances
were
confirmed
as
a
feature
of
this
condition
in
two
further
families
.
There
are
low
levels
of
antioxidant
markers
and
high
levels
of
oxidative
markers
,
in
addition
of
low
levels
of
some
anti-
inflammatory
fatty
acids
in
persons
suffering
PLS
and
some
of
their
relatives
.
