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Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients
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Orientador(es)
Resumo(s)
Aims: Mutations
in
the
LDLR
gene
are
the
major
cause
of
familial
hypercholesterolaemia
(FH),
which
results
in
defective
catabolism
of
LDL
leading
to
premature
coronary
heart
disease.
Presently,
more
than
1700
different
mutations
in
the
LDLR
gene
have
been
described
as
causing
FH
but
the
majority
of
them
remain
without
functional
characterization.
In
the
Portuguese
Familial
Hypercholesterolemia
Study
(PFHS),
123
LDLR
alterations
were
found
in
243
index
patients
and
their
relatives
up
to
date.
Until
now,
70
of
these
alterations
already
have
a
final
classification
of
pathogenic
and
15
have
been
proved
by
in
vitro
studies
to
be
non-pathogenic.
The
aim
of
the
present
work
is
to
functionally
characterize
16
LDLR
missense
alterations
found
in
Portuguese
FH
patients
and
worldwide.
Descrição
Palavras-chave
Doenças Cardio e Cérebro-vasculares
Contexto Educativo
Citação
Editora
Instituto Nacional de saúde Doutor Ricardo Jorge, IP