Albinism

Albinism Albinism is caused if one genetic defect makes the body unable to produce or distribute melanin. What causes the gene to be defected? You might ask. Well, the genes for OCA (Oculocutaneous albinism) are located in the autosomal chromosomes. Autosomes are chromosomes that hold genes that identify our physical appearance and body characteristics.They are the opposite of sex chromosomes. 1. A human being normally has two copies of these chromosome and the genes inside them, one from our father and one from our mother. To get Albinism, both of those copies need to be disfunctional. 1. The albinism mutation specifically appears in the tyrosinase gene, and can be caused by any one of the following mutations. 2. These defected genes would normally carry specific intructions for creating one of the many proteins involved in the production of melanin. Melanin is formed by cells called melanoctydes, which reside in the skin and eyes. So if this gene cannot do all of this process Melanin does not get to the eyes, skin, or hair, making you Albino. This genetic defect is hereditary.
 * Albinism: Explained**
 * a single-base insertion (C) into codon 310 that shifts the reading frame and introduces a stop codon (TGA) at 317
 * a single base mutation at codon 77 that changes CCG (Arg) to CAG (Gln)
 * A nonsense mutation, codon 278CGA (Arg) to TGA (stop codon)
 * a substitution mutation that changes 431 CCA (Pro) to CTA (Leu).


 * Pictures of People with Albinism:**



To diagnose a patient suffering from albinism, doctors have to take various genetic tests to see if you have any mutation in the tyrosinase gene.


 * Benefits of Diagnostics and Treatments:**
 * It is easy to recognize a person as a victim of this genetic mutation because of their light skin color and eye color, regarding the lack of pigmentation.
 * It is easier to diagnose a patient if they have a carriers of the mutated gene in their families.
 * The treatment (only used to prevent the mutation from getting worse) is fairly easy to apply. It consists in wearing a lot of sunblock, avoiding any risk of a sunburn, use of complete clothing when exposed to the sun, and sunglasses are also sometimes prescribed because they can protect the eyes from UV rays. 3.
 * Victims of albinism should not worry about short-term life span.
 * If only one of the parents is a carrier of the genetic disease, then the offspring will almost never inherit the mutation.


 * Limitations of Diagnostics and Treatments**:
 * Diagnosing and treating albinism is hard to do because of the fact that there are many types of albinism, physically alike, but different in its intensity and the cause of the mutation. 3.
 * Some symptoms may lead to diseases. For example, the lack of pigmentation in the skin leaves it very vulnerable to cancer or other skin disorders. Also, the lack of pigmentation in the eyes (specially in the iris) could lead to blindness if they are overexposed to the sun.
 * If both parents are carriers of the genetic disease, then offspring will most likely have albinism.
 * Scientists have yet to find a cure.


 * Social and Cultural Effects**

__Social__: Social influences have great impacts on people with this genetic disorder. They find it hard to fit in because of their physical appearance, often falling victims of lack of understanding, fear of the unknown, stereotypes, and prejudice. Individuals with albinism, specially children or teenagers, have to learn to cope with themselves and society, for the sake of maintaining a healthy relationship with their social environment. Physical appearance is the first thing people realize about albinos. The skin color of a person is a very delicate matter now and historically as well. Strangers are known to make unkind and insensitive comments about the skin color of the person with the mutation. This perception of being different can cause the individual to make huge efforts to be "normal" and can go under a lot of pressure. Self-esteem is at risk in these situations and family and friends should try and deny these acts, and try to make the person with the mutation understand that he or she is fine the way they are, and they should not try to be something they are not. Name calling is also a very frustrating part of being albino. The very word "albino" is a very common word, and many with the disorder are comfortable with its use. But it can also be used in hurtful ways. Teasing and name-calling can also be very hurtful to the individuals feelings. Almost every person with albinism suffers from teasing and bullying throughout school years. Apart from this, they also have to cope with myth, and misconceptions of what albinism really is. A common myths range from people thinking that albinos have magical powers, to people thinking they are all retarded. Media also contributes to these stereotypes. Albinos are often portrayed as bad, or villains, or mutant, or disfigured. This has added to popular ignorance more and more to create these stereotypes that are so widespread, even people with the mutation start to believe it! It is of essence that parents are well informed about albinism, specially if your child has the disorder. 4.

__Cultural__: People with albinism are being persecuted almost in all of Eastern Africa due to a superstition that certain parts of individuals with this genetic mutation "transmit magical powers". Witch doctors in these areas exploit these beliefs in order to use the body parts for rituals or potions, and argue that their powers will greatly benefit the user. They are murdered, persecuted, and dismembered. Some do it for the very opposite reason; they believe albinos bring bad luck, or curses. Now, in Tanzania, the place with the largest concentration of albinos in all of africa, many programs have been set up by the government and other volunteers to help these albinos that are being hunted. One example is the Tanzania Albino Society. Albinos are discriminated a lot in most cultures, and I wanted to give you an example of what it is to be an albino in East Africa right now. You would be hunted for your body parts to be sold to witch doctors, so that you could be turned into a potion or ritual. 5.

1. NOAH - What is Albinism? March 8 2012 2. [] 3. [] 4. [] 5. []
 * References**

** Works Cited **
 * Albinistic Man Portrait. N.d. JPEG file. **
 * Mayo Clinic Staff. “Causes.” Mayo Clinic. N.p., n.d. Web. 12 Mar. 2012. . **
 * “Social Aspects of Albinism.” NOAH. N.p., n.d. Web. 12 Mar. 2012. . **
 * Tomita, Yasushi, and Yoshinori Miyamura. “Ocolucutaneous Albinism.” Invited Review Articles: n. pag. Nayoga University School of Medicine. Web. 12 Mar. 2012. . **
 * “What is Albinism.” NOAH. N.p., n.d. Web. 12 Mar. 2012. . **