JIMD Reports,
Journal Year:
2024,
Volume and Issue:
65(4), P. 239 - 248
Published: June 2, 2024
Familial
chylomicronemia
syndrome
(FCS)
is
a
rare
disorder
of
triglyceride
(TG)
metabolism
caused
by
loss
function
variants
in
one
five
known
canonical
genes
involved
chylomicron
lipolysis
and
clearance-
Biomedicine & Pharmacotherapy,
Journal Year:
2023,
Volume and Issue:
169, P. 115874 - 115874
Published: Nov. 9, 2023
GPIHBP1
is
a
protein
found
in
the
endothelial
cells
of
capillaries
that
anchored
by
glycosylphosphatidylinositol
and
binds
to
high-density
lipoproteins.
attaches
lipoprotein
lipase
(LPL),
subsequently
carrying
enzyme
anchoring
it
capillary
lumen.
Enabling
lipid
metabolism
essential
for
marginalization
lipoproteins
alongside
capillaries.
Studies
underscore
significance
transporting,
stabilizing,
aiding
LPL.
The
intricate
interplay
between
LPL
has
provided
novel
insights
into
chylomicronemia
recent
years.
Mutations
hindering
formation
or
reducing
efficiency
GPIHBP1-LPL
complex
are
central
onset
chylomicronemia.
This
review
delves
structural
nuances
interaction,
consequences
mutations
leading
chylomicronemia,
cutting-edge
advancements
treatment.
Biomedicines,
Journal Year:
2024,
Volume and Issue:
12(6), P. 1224 - 1224
Published: May 31, 2024
The
APOA1/C3/A4/A5
cluster
is
an
essential
component
in
regulating
lipoprotein
metabolism
and
maintaining
plasma
lipid
homeostasis.
A
genome-wide
association
analysis
Mendelian
randomization
have
revealed
potential
associations
between
genetic
variants
within
this
disorders,
including
hyperlipidemia
cardiovascular
events.
An
enhanced
understanding
of
the
complexity
gene
regulation
has
led
to
growing
recognition
regarding
role
epigenetic
variation
modulating
expression.
Intensive
research
into
regulatory
patterns
will
help
increase
our
pathogenesis
disorders
facilitate
development
new
therapeutic
approaches.
This
review
discusses
biology
how
affects
circulating
lipoproteins
current
progress
cluster.
JIMD Reports,
Journal Year:
2024,
Volume and Issue:
65(4), P. 239 - 248
Published: June 2, 2024
Familial
chylomicronemia
syndrome
(FCS)
is
a
rare
disorder
of
triglyceride
(TG)
metabolism
caused
by
loss
function
variants
in
one
five
known
canonical
genes
involved
chylomicron
lipolysis
and
clearance-