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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 micro bodies that participate in the metabolism of fats called peroxisome's 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 Xq 28. 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 eric 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 Transport 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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Research essay sample on Fatty Acids Nerve Fibers
