Adrenoleukodystrophy Research Paper

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Adrenoleukodystrophy, also known as ALD, is an inherited X-linked recessive neurometabolic disease. Increased plasma and tissue levels of saturated very long-chain fatty acids, especially C24:0 and C26:0, accumulate in individuals affected with ALD. This occurs because they cannot metabolize fatty acids properly due to reduced peroxisome VLCFA beta-oxidation activity. This results in the loss of myelin sheath surrounding the nerve cells in the brain and adrenal gland. As the myelin sheath continues to be degraded, the body progressively becomes dysfunctional and it eventually leads to death of the individual (1). ALD affects about 1 in every 17,000 individuals worldwide. Because ALD is an X-linked recessive disease and males only have one X-chromosome, they have an increased risk to inherit the disease over females. Males only need one recessive allele on their X-chromosome in order to inherit this disease, while women need two recessive alleles. Because men who possess the recessive allele on their X-chromosome always inherit the disease, they cannot act as carriers because they cannot live long enough to reproduce. Women are the only carriers of this disease because they can have both a dominant and recessive allele on their X-chromosome. Women who are carriers of this disease may not show symptoms but they can pass the disease down to their children (2). The onset of the childhood cerebral form is between the ages of 4-10 and is the most severe form of ALD. The usual symptoms for children with ALD are, behavioral changes, blindness, deafness, seizures, fatigue and poorly enunciated speech. AMN is another form of ALD, but is less severe and its onset is in adults between the ages of 21-35. The usual symptoms that appear in a... ... middle of paper ... ...ed VLCFAs. The Hematopoietic Stem Cell Transplantation is transplantation of a healthy donor’s bone marrow or umbilical cord to individuals affected with ALD. This type of treatment is more successful when the transplant is done at early stages of the illness (6). Inclusion bodies that were detected in testicular, adrenal and Schwann cells, comprised of cholesterol, phospholipids and gangliosides esterified with saturated very long chain fatty acids (VLCFA) were found through biochemical analysis in the 1970s. These inclusion bodies were also found in the blood plasma and fibroblast of individuals with ALD. These findings were very essential to the beginning of understanding this disease because they allowed for identification of male patients suffering from ALD. Plasma analysis for VLCFAs is still widely used today and is an important initial biomarker for ALD (1).

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