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Mutagenesis of mitochondrial DNA in Fuchs endothelial corneal dystrophy.
[]
Fuchs
endothelial
corneal
dystrophy
(
FECD
)
is
an
age-related
,
slowly
progressive
disease
,
which
may
lead
to
loss
of
vision
resulting
from
apoptosis
of
corneal
endothelial
(
CE
)
cells
,
dysfunction
of
Descemet
membrane
(
DM
)
and
corneal
edema
.
A
growing
body
of
evidence
suggests
that
oxidative
stress
may
play
a
major
role
in
the
pathogenesis
of
FECD
and
that
mitochondria
of
CE
cells
are
its
main
target
.
Mitochondrial
DNA
(
mtDNA
)
is
particularly
prone
to
oxidative
stress
and
changes
in
mtDNA
were
reported
in
FECD
patients
.
In
the
present
work
we
studied
mtDNA
damage
and
repair
,
mtDNA
copy
number
,
and
the
4977
bp
common
deletion
in
mtDNA
in
DM
cells
and
peripheral
blood
lymphocytes
(
PBLs
)
isolated
from
FECD
patients
.
PBLs
from
35
FECD
patients
and
32
controls
were
challenged
for
10
min
with
hydrogen
peroxide
at
20
μM
and
then
left
in
a
fresh
medium
for
3
h
,
resulting
in
a
decrease
in
mtDNA
copy
number
in
both
groups
.
Damage
to
mtDNA
was
not
fully
repaired
after
3
h
and
the
extent
of
remaining
lesions
was
significantly
higher
in
the
patients
than
the
controls
.
We
observed
a
higher
copy
number
and
an
increased
extent
of
mtDNA
damage
as
well
as
a
higher
ratio
of
the
common
4977
bp
deletion
in
DM
cells
of
FECD
patients
than
the
controls
.
Our
results
confirm
that
mutagenesis
of
mtDNA
may
be
involved
in
FECD
pathogenesis
and
disturbance
in
mtDNA
sensitivity
to
damaging
agent
as
well
as
changes
in
mtDNA
damage
repair
along
with
alternations
in
mtDNA
copy
number
may
underline
this
involvement
.
