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Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix.
[epidermolysis bullosa simplex]
Lysyl
hydroxylase
3
(
LH
3
)
is
a
multifunctional
enzyme
possessing
lysyl
hydroxylase
,
collagen
galactosyltransferase
,
and
glucosyltransferase
(
GGT
)
activities
.
We
report
here
an
important
role
for
LH
3
in
the
organization
of
the
extracellular
matrix
(
ECM
)
and
cytoskeleton
.
Deposition
of
ECM
was
affected
in
heterozygous
LH
3
knock-out
mouse
embryonic
fibroblasts
(
MEF
(
+
/
-
)
)
and
in
skin
fibroblasts
collected
from
a
member
of
a
Finnish
epidermolysis
bullosa
simplex
(
EBS
)
family
known
to
be
deficient
in
GGT
activity
.
We
show
the
GGT
deficiency
to
be
due
to
a
transcriptional
defect
in
one
LH
3
allele
.
The
ECM
abnormalities
also
lead
to
defects
in
the
arrangement
of
the
cytoskeleton
in
both
cell
lines
.
Ultrastructural
abnormalities
were
observed
in
the
skin
of
heterozygous
LH
3
knock-out
mice
indicating
that
even
a
moderate
decrease
in
LH
3
has
deleterious
consequences
in
vivo
.
The
LH
3
null
allele
in
the
EBS
family
member
and
the
resulting
abnormalities
in
the
organization
of
the
extracellular
matrix
,
similar
to
those
found
in
MEF
(
+
/
-
)
,
may
explain
the
correlation
between
the
severity
of
the
phenotype
and
the
decrease
in
GGT
activity
reported
in
this
family
.