Essay: Organelles and Disease: Adrenoleukodystophy (ALD)

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Understanding an Animal Cell: Basic Units of Life
The cell is the fundament unit of life. They make up the smallest level of a living organism in the human body, where the metabolic processes happen to in order to maintain life. It itself is considered a mini-organism made up from organs called organelles. These organelles are the structural and functional units and are created from several macromolecules connected together. A typical animal cell contains the following organelles (Tracey Greenwood, 2012): the nucleus (which houses the DNA), mitochondria (which produce energy), ribosomes (which make protein), the endoplasmic reticulum (for transportation) and the golgi apparatus (which distributes macromolecules). Animal cells also contain little digestive compartments, called lysosomes and peroxisomes, which break down macromolecules and gets rid of foreign bodies. See diagram below:

(Stein, 2008)

What is ALD?
Adrenoleukodystrophy (ALD), is a deadly genetic disorder that is quite rare affects 1 in 1800 (Foundation, 2004). The disease affects the adrenal glands & ‘White Matter’ of the brain by destroying myelin, the protective casing that surrounds the brain’s neurons. It causes progressive loss of physical and mental skills. It is a group of disorders caused by a defect of peroxisomes, which help to the brake down of fatty acids in the cells, resulting in very long chain fatty acids (VLCFA).
The most disturbing form of ALD emerges in childhood, normally between the ages of four and ten years old. Healthy boys unexpectedly begin to regress. At first, they show withdrawal or experience difficulty in concentrating. Then, as the disease destroys their brain, their symptoms get worse, including deafness and blindness, loss of muscle control, seizures and progressive dementia. Leading to either death or permanent disability, within 2 to 5 years from diagnosis.

There are three types of Adrenoleukodystrophy; Childhood cerebral ALD affects children who are between 4 and 10 years old. It progresses rapidly if the condition is not diagnosed early enough, Adrenomyelopathy (AMN), affects adult males and is milder than childhood cerebral ALD. But it progresses slowly by comparison and Addison’s disease, also known adrenal insufficiency. Addi-son’s disease develops when your adrenal glands don’t make enough hormones

Is it inherited?
ALD is an X-linked recessive disorder, meaning that only boys are affected and the mother may be a carrier of the disease. As human beings we have about 30,000 to 40,000 different genes, each has a function in making a person individual. The genes are arranged in pairs (one of the pair from each parent) on 23 chromosomes, some of these genes can be damaged.
The gender of the child will be determined by chromosomes that either contain XX (female) or XY (male). The damaged gene in ALD is on the X chromosome. Because females have two X chromosomes, the damage can be completely or partially oppressed by the other healthy X in the pair, but males however, do not have a second X chromosome to provide the working gene.
Most carriers of this faulty gene remain healthy, so unless other boys in …

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