Peroxisomes and Adrenoleukodystrophy
Adrenoleukodystrophy, or ALD, is a rare genetic disorder in which the myelin sheath surrounding nerve cells in the brain breaks down, and the adrenal gland progressively loses function.(medical dictionary. Myelin sheaths coat nerves to speed up and strengthen neural impulses. If the myelin malfunctions, many neural messages will not do what they should. ALD primarily affects boys and men. It is extremely rare, only 1 in every 100,000 people are afflicted. Children diagnosed with this disease experience many behavioral and learning delays. Other symptoms often include difficulty speaking, trouble with motor movements, and an impaired adrenal gland. The adrenal gland produces many essential hormones for the body. ALD is usually diagnosed using blood tests and MRI’s, and occasionally vision screening. Unfortunately, the prognosis is very poor. Death usually occurs within 1 to 10 years after the first onset of …show more content…
Peroxisomes are still present, just abnormal. The peroxisomes of people with ALD are unable to break down fatty acids, or VLCFA’s. (boundless.com 2013). This is caused by a mutation in the ABCD1 gene. This particular gene normally provides instructions for producing the adrenoleukodystrophy protein, located in peroxisomes. This protein normally assists in breaking down fatty acid chains inside the peroxisomes.The mutations on the ABCD1 gene cause a shortage of the adrenoleukodystrophy protein. Because not enough of the protein is present, the body’s peroxisomes are unable to break down fatty acid chains, so the fatty acids will build up and cause the symptoms of ALD: breakdown of the adrenal gland and myelin sheaths. The breakdown of these structures then results in the severe symptoms of ALD. It is also possible that the excess fatty acids causes an inflammatory response in the brain, which causes the demyelination of nerves. (159
Adrenoleukodystrophy, or ALD, is a rare genetic disorder in which the myelin sheath surrounding nerve cells in the brain breaks down, and the adrenal gland progressively loses function.(medical dictionary. Myelin sheaths coat nerves to speed up and strengthen neural impulses. If the myelin malfunctions, many neural messages will not do what they should. ALD primarily affects boys and men. It is extremely rare, only 1 in every 100,000 people are afflicted. Children diagnosed with this disease experience many behavioral and learning delays. Other symptoms often include difficulty speaking, trouble with motor movements, and an impaired adrenal gland. The adrenal gland produces many essential hormones for the body. ALD is usually diagnosed using blood tests and MRI’s, and occasionally vision screening. Unfortunately, the prognosis is very poor. Death usually occurs within 1 to 10 years after the first onset of …show more content…
Peroxisomes are still present, just abnormal. The peroxisomes of people with ALD are unable to break down fatty acids, or VLCFA’s. (boundless.com 2013). This is caused by a mutation in the ABCD1 gene. This particular gene normally provides instructions for producing the adrenoleukodystrophy protein, located in peroxisomes. This protein normally assists in breaking down fatty acid chains inside the peroxisomes.The mutations on the ABCD1 gene cause a shortage of the adrenoleukodystrophy protein. Because not enough of the protein is present, the body’s peroxisomes are unable to break down fatty acid chains, so the fatty acids will build up and cause the symptoms of ALD: breakdown of the adrenal gland and myelin sheaths. The breakdown of these structures then results in the severe symptoms of ALD. It is also possible that the excess fatty acids causes an inflammatory response in the brain, which causes the demyelination of nerves. (159