Ald Reserach

Adrenoleukodystrophy Research Paper

Lorenzo Odone was a normal boy up until the age of five. At this point Lorenzo started having problems controlling his emotions and acting up in school. His parents were worried about him and brought him to a doctor to see if something was wrong with their son. Testing showed that Lorenzo had childhood cerebral X-linked adrenoleukodystrophy or ALD. This disease is very rare and normally starts showing symptoms around the ages of four to twelve. Being diagnosed with this disease is basically a death sentence and the patient usually has up to ten years to live once the symptoms begin.

ALD is one of eight leukodystrophies, which are inheritable metabolic diseases that lead to the destruction of myelin. This disease is a recessive X-linked genetic trait, which means that the trait for ALD is carried on the X chromosome. Since this is the case, the disease is only affecting males. Males normally do not live long enough to pass the disease onto their sons, so female carriers of the trait are responsible for passing it on to their sons.

The gene mutation for ALD causes the production of a malfunctioning transporter protein in peroxisomes, which is within cells and is responsible for breaking down long chain fatty acids. Since the protein is malfunctioned, the enzyme responsible for breaking down the fatty acids cannot do its work and break down the fatty acids. In result of this, the brain accumulates high amounts the saturated long chain fatty acids. This will cause damage to the myelin sheath, an insulating membrane

that surrounds nerve cells in the brain. The loss of myelin and the dysfunction of the adrenal gland are the characteristics that describe the disease.

Myelin is very much needed in the working of the central and nervous systems because it insulates the axons of neurons and speed nerve impulses. Without myelin, the impulses are slowed down or completely stopped. As the long chain fatty acids...