Oculocutaneous albinism involves the absence of melanin. The main subdivisions of albinism include Oculocutaneous, ocular, and albinoidism. Albinism is caused by the absence and mutation of certain proteins and enzymes, which control the production of melanin. This affects hair and skin color, and also the optic system.
Hypothesis:.
I believe that albinism is a disease that is inherited through genetic abnormalities. That's why it causes the individual to have lighter colored skin, hair, and eyes. I believe that it could possibly be detected before birth, and perhaps genetically altered.
Information:.
Oculocutaneous albinism affects 1 in 17,000 individuals. It is currently an undetectable disease. Albinism is a disease that is in fact inherited through genetic abnormalities within melanin synthesis. This causes an absence of melanin, which is a black pigment in skin cells. Cellular pigmentation is dependent upon a cell's ability to manufacture the pigment melanin. Melanin is produced within organelles called melanosomes, which are located inside cells called melanocytes. The melanocytes that originate in the neural crest provide pigment for the skin, hair, and various parts of the eyes, such as the uvea and stroma of the iris. The melanocytes that supply pigment for the retinal pigment epithelium come from neuroectoderm. Inside the melanosome, melanin is synthesized from the amino acid tyrosine through the actions of the enzyme tyrosinase. .
Oculocutaneous albinos are classified as tyrosinase-positive or tyrosinase-negative. Tyrosinase-positive and -negative Oculocutaneous albinos have an autosomal recessive inheritance pattern. Oculocutaneous albinism is directly caused by incomplete melanization of the cellular melanosomes. In tyrosinase-negative Oculocutaneous albinism, the congenital inactivity of the enzyme tyrosinase prevents the cell's use of tyrosine in the formation of the pigment melanin.