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The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome.
[zellweger syndrome]
Docosahexaenoic
acid
(
DHA
,
22
:
6
ω
3
)
is
a
fundamental
component
of
cell
membranes
,
especially
in
the
brain
and
retina
.
In
the
experimental
animal
,
DHA
deficiency
leads
to
suboptimal
neurological
performance
and
visual
deficiencies
.
Children
with
the
Zellweger
syndrome
(
ZS
)
have
a
profound
DHA
deficiency
and
symptoms
that
can
be
attributed
to
their
extremely
low
DHA
levels
.
These
children
seem
to
have
a
metabolic
defect
in
DHA
biosynthesis
,
which
has
never
been
totally
elucidated
.
Treatment
with
DHA
ethyl
ester
greatly
improves
these
patients
,
but
if
we
could
normalize
their
endogenous
DHA
production
we
could
get
additional
benefits
.
We
examined
whether
DHA
biosynthesis
by
Δ
4
-
desaturation
could
be
enhanced
in
the
human
species
by
transfecting
the
enzyme
,
and
if
this
could
normalize
the
DHA
levels
in
cells
from
ZS
patients
.
We
showed
that
the
Δ
4
-
desaturase
gene
(
Fad
4
)
from
Thraustochytrium
sp
,
which
can
be
expressed
by
heterologous
transfection
in
other
plant
and
yeast
cells
,
can
also
be
transfected
into
human
lymphocytes
,
and
that
it
expresses
the
enzyme
(
FAD
4
,
Δ
4
-
desaturase
)
by
producing
DHA
from
direct
Δ
4
-
desaturation
of
22
:
5
ω
3
.
We
also
found
that
the
other
substrate
for
Δ
4
-
desaturase
,
22
:
4
ω
6
,
was
parallely
desaturated
to
22
:
5
ω
6
.
The
present
"
in
vitro
"
study
demonstrates
that
Δ
4
-
desaturase
can
be
transfected
into
human
cells
and
synthesize
DHA
(
as
well
as
22
:
5
ω
6
,
DPA
)
from
22
:
5
ω
3
and
22
:
4
ω
6
,
respectively
,
by
putative
Δ
4
-
desaturation
.
Even
if
this
pathway
may
not
be
the
physiological
route
for
DHA
biosynthesis
"
in
vivo
"
,
the
present
study
opens
new
perspectives
for
the
treatment
of
patients
within
the
ZS
spectrum
.
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Diseases presenting
"visual deficiencies"
symptom
zellweger syndrome
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