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RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations.
[canavan disease]
RasGRF
1
null
mutant
mice
display
impaired
memory
/
learning
and
their
hippocampus
transcriptomic
pattern
includes
a
number
of
differentially
expressed
genes
playing
significant
roles
in
sensory
development
and
function
.
Odour
avoidance
and
auditory
brainstem
response
tests
yielded
normal
results
but
electroretinographic
analysis
showed
severe
light
perception
impairment
in
the
RasGRF
1
knockouts
.
Whereas
no
structural
alterations
distinguished
the
retinas
of
wild-
type
and
knockout
mice
,
microarray
transcriptional
analysis
identified
at
least
44
differentially
expressed
genes
in
the
retinas
of
these
Knockout
animals
.
Among
these
,
Crb
1
,
Pttg
1
,
Folh
1
and
Myo
7
a
have
been
previously
related
to
syndromes
involving
retina
degeneration
.
Interestingly
,
over-expression
of
Folh
1
would
be
expected
to
result
in
accumulation
of
its
enzymatic
product
N-
acetyl-aspartate
,
an
event
known
to
be
linked
to
Canavan
disease
,
a
human
cerebral
degenerative
syndrome
often
involving
blindness
and
hearing
loss
.
Consistently
,
in
vivo
brain
nuclear
magnetic
resonance
spectroscopy
identified
higher
levels
of
N-
acetyl-aspartate
in
our
RasGRF
1
-
/
-
mice
and
immunohistochemical
analysis
detected
reduced
levels
of
aspartoacylase
,
the
enzyme
which
degrades
N-
acetyl-aspartate
.
These
studies
demonstrate
for
the
first
time
the
functional
relevance
of
Ras
signalling
in
mammalian
photoreception
and
warrant
further
analysis
of
RasGRF
1
Knockout
mice
as
potential
models
to
analyse
molecular
mechanisms
underlying
defective
photoreception
human
diseases
.
Diseases
Validation
Diseases presenting
"functional relevance"
symptom
canavan disease
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
inclusion body myositis
neuralgic amyotrophy
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