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Adrenoleukodystrophy (ALD)
is a
rare, inherited metabolic disorder
that afflicts the young boy Lorenzo
Odone, whose story is told in the
1993 film "Lorenzo's
oil." In this disease, the fatty
covering (myelin
sheath) on nerve fibers in the
brain is lost, and the adrenal gland
degenerates, leading to progressive
neurological disability and death.
People with ALD accumulate high
levels of saturated, very long chain
fatty acids in their brain and
adrenal cortex because the fatty
acids are not broken down by an
enzyme in the normal manner. So,
when the ALD gene was
discovered in 1993, it was a
surprise that the corresponding
protein was in fact a member of a
family of transporter proteins, not
an enzyme. It is still a mystery as
to how the transporter affects the
function the fatty acid enzyme and,
for that matter, how high levels of
very long chain fatty acids cause
the loss of myelin on nerve fibers.
More recently, all the transporters
related to ALD protein have been
found in the yeast Saccharomyces
cerevisiae, and a mouse model
for the human disease has been
developed. These and other molecular
biology approaches should further
our understanding of ALD and hasten
our progress toward effective
therapies.
Source
In
speaking with a researcher for ALD,
he said that the mother must have a
certain thing happening with the X
chromosome.
I
found that this chemical exposure
does cause some problems with
a woman's X
chromosome, so
possibly a birth defect for her?
Margaret
e-mail
3-19-05
Who am I? Just an ordinary
person who looked into the harm of
this chemical (& spent a lot of time
doing so since June, 2002)
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