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Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasis.
[papillon-lefèvre syndrome]
Loss
-of-function
point
mutations
in
the
cathepsin
C
gene
are
the
underlying
genetic
event
in
patients
with
Papillon-
Lefèvre
syndrome
(
PLS
)
.
PLS
neutrophils
lack
serine
protease
activity
essential
for
cathelicidin
LL-
37
generation
from
hCAP
18
precursor
.
We
hypothesized
that
a
local
deficiency
of
LL-
37
in
the
infected
periodontium
is
mainly
responsible
for
one
of
the
clinical
hallmark
of
PLS
:
severe
periodontitis
already
in
early
childhood
.
To
confirm
this
effect
,
we
compared
the
level
of
neutrophil-derived
enzymes
and
antimicrobial
peptides
in
gingival
crevicular
fluid
(
GCF
)
and
saliva
from
PLS
,
aggressive
and
chronic
periodontitis
patients
.
Although
neutrophil
numbers
in
GCF
were
present
at
the
same
level
in
all
periodontitis
groups
,
LL-
37
was
totally
absent
in
GCF
from
PLS
patients
despite
the
large
amounts
of
its
precursor
,
hCAP
18
.
The
absence
of
LL-
37
in
PLS
patients
coincided
with
the
deficiency
of
both
cathepsin
C
and
protease
3
activities
.
The
presence
of
other
neutrophilic
anti-microbial
peptides
in
GCF
from
PLS
patients
,
such
as
alpha-defensins
,
were
comparable
to
that
found
in
chronic
periodontitis
.
In
PLS
microbial
analysis
revealed
a
high
prevalence
of
Aggregatibacter
actinomycetemcomitans
infection
.
Most
strains
were
susceptible
to
killing
by
LL-
37
.
Collectively
,
these
findings
imply
that
the
lack
of
protease
3
activation
by
dysfunctional
cathepsin
C
in
PLS
patients
leads
to
the
deficit
of
antimicrobial
and
immunomodulatory
functions
of
LL-
37
in
the
gingiva
,
allowing
for
infection
with
A
.
actinomycetemcomitans
and
the
development
of
severe
periodontal
disease
.
Diseases
Validation
Diseases presenting
"deficiency of ll-37 in the infected periodontium"
symptom
papillon-lefèvre syndrome
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