Fallowing text is the English translation of the introdution of my ALD-researches. Unfortunately the hole research is available only in German.

 

Introduction - ALD, what's this?

ALD, the Adrenoleukodystrohy, is a perixosomal disease, that means it's a disease that cause problems in the perixisoms (organ in the human cell).

The enzyme that should decrease the very long chained saturated fatty acids (>C22) in the perixosoms is defective or is missing totally. Therefore couldn't the very long chained saturated fatty acids (saturated, because they have single linkages between the C-atoms) be decreased in their smaller parts. That's the reason why the amount of the very long chained saturated fatty acids, especially C24 and C26, increases. It isn't known yet why the very long chained saturated fatty acids only have been decreased in the perixosoms. The defect of this enzyme (perixosomal very long chained saturated fatty acid CoA synthetasis) is linked to the sexual chromosome. To determine this fact: The gene, which should code the VLCFA-enzyme, is on the Xq28-region of the X-chromosome. That's the cause why only men have ALD, because only men have a single X-chromosome. Man (XY) became ill, because the ALD-gene is on the X-chromosome in difference to women (XX), who have two X-chromosomes. If the female X-chromosome have the ALD-gene on it, the women have a second, healthy X-chromosome. Therefore is the woman a carrier, which means, that ALD is only given from the mother to her son. It isn't clear, how the gene defect was caused. A mutation can be a possible explanation, but it has to be determining, that no geographic preferences have been examined. That means it couldn't be seen, that the mutation affecting ALD is in one region spreader than in others. The fact that no ALD is known on the African continent (with the exception of South Africa) maybe can be explained with the inexperience of ALD in these regions.

If the amount of C24 and C26 increases, the non-decreased fatty acids enrich in brain and damage the myelin, which protect the nerves. It can only be assumed how the enrichment of very long chained fatty acids is affecting the myelin.

Less myelin can have fatal causes for the ALD-boy. These causes appear especially between the age of four and ten. Less myelin causes at the beginning for example abrupt attacks and malfunctions of visual, audio and speech faculty as well as difficulties of swallowing. After a while the patient become totally paralyzes and dies at the end. Some patients have skin alterations that are caused by the malfunction of the adrenal glands, which is caused by the very long chained saturated fatty acids. The disease carries in his name the word adrenal, but there's nothing that causes more doubts than this adrenal damages. It could be seen that some ALD-patients hadn't adrenal problems. Nevertheless I will describe some adrenal causes, especially following: the enrichment of very long chained saturated fatty acids in the adrenal glands damages the ACTH-activity and causes therefore damages in the adrenal glands.

Because only one person of a million has ALD, less money is given for researches.

In 1923 ALD was described the first time and received 50 years later a name. Some scientists tried in the 80's to decrease the myelin atrophy of ALD-patient. They threatened them with a diet, taken all fatty acids out of their nutrition. This diet wasn't successful. The scientists didn't know what to do till Augsto Odone, father of an ALD-boy, discovered, that the body composes his fatty acids deficiency with producing itself fatty acids through a biosynthesis. He discovered that if C24 and C26 are taken out of the nutrition and the ALD-patient is receiving oil acid (C18) the biosynthesis of C24 and C26 decreases of 50 percent. Reason therefore is the fact, that the enzyme, that decreases the long chained unsaturated fatty acids (C18) the same is like this one, which is involved in the biosynthesis of the very long chained saturated fatty acids (C24 and C26). This enzyme can be diverting if the patient receives C18. Because the oil acid therapy itself only causes a 50 percent reaction, the patient received oil acid and erucic acid (C22). The recovery of ALD seemed to be reached. After all there were short-term successes.

But the oil-erucic-acid-therapy isn't a final recovery. Therefore scientists inquires on other branches.

They try to reach successes with bone marrow transplantation. With some exceptions also this didn't was successful.

In this essay I will also describe the causes that incurable diseases affect in general, like depressions, social and financial problems.