Albinism Genetics

Albinism genetics

        Albinism is a genetic disease that may occur in children whose parents do not suffer of albinism. Children with albinism are born with a very clear skin and hair color, almost white, due to the absence of pigment (melanin, which protects the skin from the sun's radiation and usually gives a complexion more or less coloured). The incidence of albinism is elevated in patients with dark skin.

Albinism genetics pictures

        Oculocutaneous albinism is a group of hereditary diseases that rarely occur, characterized by total or partial depigmentation of the skin, hair and hair with eye disorders. During albinism, the number of melanocytes, that is to say, cells that produce melanin is normal, but there are at genetic level, mutations of the tyrosinase gene the enzyme that is required to manufacture the melanin pigment. The transmission of this disease is autosomal recessive, that is to say, it is necessary that both parents carry the abnormal gene for the offspring.
The amount of melanin depends on several factors:

• Heredity.
• Hormones from stimulating melanin.
• Pathological factors such as albinism.
• The melanin determines the color of skin and hair but also that of the iris, which gives it rather dark shades. The blue color of eyes is the translation of his absence in the deep layers of the iris.
• The role of melanin is to protect the skin against the sun's ultraviolet radiation that accentuate the process of aging and skin cancer.
• Metabolism (operation and action in the body) of vitamin D, especially it's synthesis (manufacturing) as a result of light rays are related to how much more or less melanin it is present. Thus, under certain latitudes, especially in cold countries, an individual whose skin contains a large amount of melanin (black) is more exposed to a white rickets (rickets due in part to a Vitamin D deficiency).
• As we age, the pigment melanin gradually seem to lose their property. But scientists do not all agree on this point. For some, the number of pigments would be reducing gradually as aging. For others, it would be a problem of distribution of these pigments in the skin, which explains the emergence of so-called old age spots.