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The full name of ALD is Adrenoleukodystrophy. It is a rare X
chromosome sex linked metabolic disorder that is characterized by the
loss of myelin on nerve fibers within the brain. Myelin is the fatty
covering on the nerve fibers. The disease causes the continued
degeneration of the adrenal gland. The basic defect is that the
impaired capacity to degrade very long chain fatty acids that are found
in the blood plasma and tissues of the body. These fatty acids
accumulate in the cerebral white matter of the brain and the adrenal
glands.
ALD only effects males. The symptoms of ALD may develop due to
abnormal or a lack of microbodies that participate in the metabolism of
fats called peroxisomes in the liver. This causes a disturbance of
fatty acid metabolism and results in the abnormal accumulation of very
long chain fatty acids. The exact enzyme deficiency that prevents the
breakdown of VLCFAs is not known.
ALD is an allelic mutation. The disease is caused by one mutation at
the locus Xq28. The mutation causes deficient activity of the ligase
enzyme. Diagnosis of the disease can be made from cultured skin
fibroblasts or amniotic fluid cells.
The disease is preventable through a combination of oleic and erucic
acid (as used in Lorenzo’s Oil) and a restricted diet lacking in very
long fatty acids. More recently, some ALD patients have been
experimentally treated with Glycerol Trioleate. Continued research is
being done to determine the effectiveness and safeness of these
substances.
For those that are identified with the disease prenatally or soon
after birth, this is a successful treatment. Those that take the
prescribed dose of the oil and are restricted in their diet
appropriately can live otherwise normal lives.
The Myelin Project is the research project dedicated to the cure of
this disease and others related to it. It is supported by many families
affected by this disease. They are attempting to hurry science and
advance to the moment where myelin can be restored. The Myelin project
has branches in Italy, Austria, Canada, Britain, France, Denmark,
Spain, Dubai, and Switzerland. The Myelin Project allows researchers to
work together effectively in conjunction with those (and their
families) affected by the disease(s).
Myelin leads to the reduction or blockage of nerve impulse
conduction. Thus, regrowing Myelin should restore conduction in
diseases for which therapies capable of halting “demyelination” have
been found. It could also prove beneficial to diseases which no
effective treatment has been developed, such as multiple sclerosis. The
Myelin Project is therefore targeting funds towards experiments geared
towards “remyelination” research.
Most recently, “the Canadian Cell Transpant unit at UBC” has
isolated an immortal human neural stem cell. Many of these unique cells
would allow for a never-ending supply of replacement cells that could
be used to treat people with neurodegenerative diseases such as
multiple sclerosis, leukodystrophies (such as ALD) and spinal cord
injury. The team has also initiated a process for human trial approval.
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