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New players in the infertility of a mouse model of lysosomal storage disease: the hypothalamus-pituitary-gonadal axis.
[krabbe disease]
Mammalian
spermatogenesis
is
a
complex
hormone-dependent
developmental
program
where
interactions
between
different
cell
types
are
finely
regulated
.
Mouse
models
in
which
any
of
the
sperm
maturation
steps
are
perturbed
provide
major
insights
into
the
molecular
control
of
spermatogenesis
.
The
Twitcher
mouse
is
a
model
for
the
Krabbe
disease
,
characterized
by
the
deficiency
of
galactosylceramidase
(
GALC
)
,
a
lysosomal
enzyme
that
hydrolyzes
the
terminal
galactose
from
galactosylceramide
,
a
typical
component
of
the
myelin
membrane
.
In
addition
,
GALC
catalyzes
the
hydrolysis
of
the
terminal
galactose
from
galactosyl-alkyl-acyl-glycerol
,
precursor
of
seminolipids
,
specifically
expressed
on
the
membrane
of
germ
cells
.
Previous
data
reported
by
our
group
demonstrated
that
glycolipids
play
an
important
role
in
sperm
maturation
and
differentiation
.
Moreover
,
we
hypothesized
that
the
severe
impairment
of
the
central
nervous
system
that
affects
the
Twitcher
mouse
could
interfere
with
the
hypothalamus-
pituitary
-
gonadal
axis
function
,
contributing
to
infertility
.
To
highlight
this
hypothesis
we
have
determined
,
at
molecular
level
,
the
potential
variation
in
expression
pattern
of
brain
hormones
involved
in
spermatogenesis
regulation
.
Diseases
Validation
Diseases presenting
"complex hormone-dependent developmental program"
symptom
krabbe disease
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