ALD results when mom has damaged X
chromosome
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Lorenzo's Oil
was a touching documentary
Lorenzo now
ald
Adrenoleukodystrophy
(ALD)
Could a girl be affected prior to
her birth if one or both parents had
serious exposure to
2-butoxyethanol? Or could she be
affected by her own exposures
throughout her life?
Then could she have what would
cause ALD in her child?
ALD is said to be genetic - on a
mom's
X chromosome
*
The Myelin
Project: Hope for Multiple
Sclerosis, the Leukodystrophies, and
other Myelin Disorders
|
... but are there some
similarities? I noticed
in the film that they
had a trial study of
immune suppression,
which leads me to
believe that the immune
system was noticed as
being 'over active' I
would suspect
autoimmune.
When Lorenzo's dad
noticed that the Polish
rat study, and the
camera panned on what he
found of interest, there
was another word, such
as hyper or hypo
thyroidism.
These would be a part of
what could come in 'the
package' of
2-butoxyethanol
poisoning. I also
wonder about
neuroblastoma such as
Alex had.
Is
neuroblastoma autoimmune?
Take a urine test in
babies for early
diagnosis?
or
hemangiomas
such as happen to babies
because they can also be
internal: on spleen,
pancreas, liver, spine.
Often baby was
premature? and of low
birth weight? Things
that are indicative of
this chemical's harm, as
well. |
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If 2-butoxyethanol were
involved there would be
autoimmune hemolytic
anemia
evidenced by
red blood cells that
are mostly immature
& in the early years,
trace blood in urine.
Check
'retic' rate
& track it over time. |
|
2-butoxyethanol causes hemolysis
... a synonym for that is hemoglobinuria
Pathophysiology:
PNH currently is reclassified from
purely an acquired hemolytic anemia due to a
hematopoietic stem cell mutation defect. This
change in concept was brought about by the
observation that surface proteins were missing
not only in the red cell membrane but also in
all blood cells, including the platelet and
white cells.
The
common denominator in the disease, a biochemical
defect, appears to be a genetic mutation leading
to the inability to synthesize the
glycosyl-phosphatidylinositol (GPI) anchor that
binds these proteins to cell membranes.
The corresponding gene PIGA
(phosphatidylinositol glycan class A) in the
X chromosome
can have several mutations, from deletions to
point mutations. The essential group of membrane
proteins that are lacking in all hematopoietic
cells are called complement-regulating surface
proteins
|
Why focus on 2-butoxyethanol?
Symptoms of exposure: |
2-butoxyethanol
(CAS 111-76-2)
does the following:
Irritating to eyes, skin, nose,
throat; Cough, nausea, drowsiness,
headache, redness of eyes, eye pain,
blurred vision, abdominal pain,
diarrhea, vomiting, CNS depression,
hemolysis,
hemoglobinuria.
MSDS |
|
Target organs: |
Eyes, skin, respiratory system, central
nervous system, hematopoietic system,
blood, kidneys, liver, lymphoid system |
|
Effects of short-term
exposure: |
Irritates the eyes, skin and respiratory
tract. Can depress the central nervous
system and cause liver and kidney
damage. |
|
Effects of long-term
exposure: |
Exposure may result in blood disorders. |
|
Special Warnings: |
Prevent generation of mists! |
hemoglobinuria? What is that?
_______________________________
ALD - Adrenoleukodystrophy
|
... the kind of
thing ... that 2-butoxyethanol
overexposure would cause ...
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
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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