Cindy Pham Disease Essay January 9, 2012

Adrenoleukodystrophy (ALD)
Adrenoleukodystrophy is shortened for ALD or otherwise known as Simerling-Creutzfeldt Disease. ALD is rare X- linked genetic disease that disrupts the metabolism of saturated fatty acids and causes the degeneration of the brain. It therefore affects mostly males around the ages of four and ten. Statistics have shown that 1 in every 18,000 boys worldwide is affected by ALD each year. People with ALD have a high amount of fatty acids that the enzyme should metabolize, but ALD itself is defective so all the fats is transferred to the brain, nervous system, adrenal gland, and testes which liquefies the white matters in your brain. This process is very similar to cholesterol in your artilleries. ALD also strips away the myelin, which is the fatty chief that stimulates the nervous system. Once ALD strips away the myelin, it causes the brain to degenerate and loses its body functions. There are three major forms of ALD: Childhood cerebral appears during the ages of four and ten Adrenomyelopathy- occurs to men in their late 20s or later in life. Addison disease adrenal gland does not produce enough steroid hormones.

Childhood form ALD symptoms include aggressive behavior, hearing loss, hyperactivity, muscle spasms, comas, and vision problems. As for Adrenomyelopathy , the symptoms include difficulty in controlling urination, muscle weakness or leg stiffness, and visual memory. Most people with the adrenomyeloneuropathy form have a lack of adrenocortical. When adrenocortical occurs, it leads into another form of ALD, which is Addison disease. People who

are diagnosed with Addison disease will only form X- linked adrenoleukodystrophy, which eventually leads to developing all signs of adrenomyeloneuropathy by the time they reach middle age. Lorenzos oil and cell transplantations (gene therapy) are considered treatments for Childhood cerebral; the treatment for treating men with adrenomyeloneurpathy is very uncommon and limited. Researchers believe that by having a low diet of fatty acids, and taking Lorenzos oil may help lower blood levels. Lorenzos Oil does not repair the myelin, but it helps prevent the body from producing long chains of fatty acids, whose buildup may cause demyelization. To help cure ALD, National Institute of Neurological Disorders and Stroke (NINDS) is aiming a research to find ways to prevent, treat, and cure ALD. With the research theyve done, they believe that 4-phenylbutrate and lovastatin, could potentially lower levels of VLCFA in the brain.

Adrenoleukodystrophy affects the animalia kingdom, more specifically, males. 1 in every 18,000 young boys ages four and ten are affected each year. It mainly affects males due to genetics. This disease is an Xlinked recessive, which means its passed down from parents to their off springs. During meiosis, the mother will give one of her X- chromosome and the father will give either his X or Y Chromosome to their offspring; this process will determine the sex of the offspring. Males only have one X- chromosome; therefore they have a greater chance of that X-chromosome being infected and having ALD. ALD does not have another specific organism used to research this disease, but there is an available treatment called gene

therapy, which involves cells taken from a person with ALD and correcting the cells with genetic sequences and putting them back into the patients body. This helps the repaired cells produce the proteins that have been defective prior to the treatment. In 1910, the first case of ALD was first discovered and observed through a pair of brothers. Both brothers died due to the symptoms of ALD. No one exactly knew the reason both brothers died, but when Doctor Paul Ferdinand Schilder examined the brains of the brothers in 1912, he discovered a major loss of myelin in both brains, causing the two brothers to die. Before Doctor Paul Ferdinand Schilder examined the two brothers, people were diagnosed with ALD and had no clue they did, which resulted in few males dying. This discovery however did not make a significant difference in the population, but it did result in death to a few males.

Cells are basic fundamental units of all living things. When a disease like Adrenoleukodystophy comes into the picture, it destroys your cells. Your brain is a perfect example, of the effect of ALD. ALD attacks the fatty chief; myelin, and, with the loss of the myelin, the adrenal gland loses its ability to properly break down fatty acids. People who are diagnosed with ALD, tend to accumulate a high level of saturated fatty acids in their brain and adrenal gland because of the ability to break down the fatty acids is long gone and the enzyme cannot break down the fatty acids in the a proper manner. The fatty acids are then stored into the brain, which deteriorates the brain. Lysosomes are affected in the cells because ALD is enabling Lysosomes to break down the fatty acids. Affected cells can divide and spread uncontrollably, which causes disease to form, while healthy cells means a healthy body (draw a healthy cell and an affected cell?)

Molecules are when atoms bond together to create different important chemical compound. In ALD, the molecules that are represented in this disease are fats; either the ones that our body makes or the ones that enters our body through food. ALD is a disorder which disables the body to break down long chains of fatty acids and molecules, but fat molecules are unable to do its job. As a result, all of the fatty molecules build up in certain areas of the body, such as the brain and adrenal gland. Furthermore, this disease is caused by the presence of the fatty acids in a cell. Due to the lack of myelin, the fatty acids become stored in the brain and start to deteriorate the brain.

The disease ALD is a genetic X-linked disease. Rather than being transmitted through a genetic mutation, the disease is passed on by a chromosomal abnormality. The basic definition of a genetic mutation is a gene mutation that is causing a permanent change in the DNA sequence that makes up the new gene. A chromosomal abnormality means that one persons abnormality in the 23rd pair of chromosome given (Xy or XX- the X is the infected one), it considered to be a chromosomal abnormality rather than a gene mutation. The disease is a gametic mutation rather than a somatic mutation. A gametic mutation is a mutation of sex cells, while somatic mutation is a non sex cell mutation. A somatic mutation occurs in DNA after conception; somatic mutations can occur in any of the cells of the body except the sperm and the egg cells (gametes) not passing on to children. For ALD, the disease we considered to be a gametic mutation due to the disease being passed from parents to offspring. Moreover, the 23rd pair demonstrates the egg and sperm cells (gametes) passed on to their chromosome to determine the sex . Remember, the disease ALD, is an X- linked disease

and because the 23rd chromosome pair is passed on by gametes, ALD is then considered to be a gametic mutation. And there is only one mutation that occurs for this disease, for the only one is gametic mutation. The gametic mutation occurs and causes the chromosomal abnormality in the offspring.