Albino people: genetics and problems suffered in different parts of the world.

This genetic alteration hinders the creation of melanin, the substance that gives color to the skin.

The DNA contained in every cell of your body contains all the information necessary for the development and functioning of an organism. Therefore, any defect in the genetic material can lead to malfunction and health problems.

A clear example is albinismalbinism: this genetic condition is characterized by the total or partial absence of pigmentation (melanin) in the skin, hair and iris of the eye.

The albino condition is not exclusive to humans, it also occurs in animals (a memorable example was Snowflake, the albino gorilla of the Barcelona Zoo) and in plants. In the latter case, they have an absence of other types of pigments, such as carotenes, since they do not naturally have melanin.

However, the lack of pigmentation is not the only characteristic of this disorder. Albino people, in fact, have many associated problems, both biological and social.both biological and social.

The function of pigments

Pigmentation in humans is carried out by cells known as melanocytes, which manufacture the two types of melanin in their cells.which manufacture the two types of melanin within themselves from the amino acid tyrosine: eumelanin (dark) and pheomelanin (light).

The combination in different proportions of these two originates the range of eye, hair and skin colors. Their main function is to protect other cells from ultraviolet light, which is harmful to DNA.

Genetic causes of albinism

Albinism has an important genetic component which has an autosomal recessive inheritance. It is simple to understand: our genetic material is composed of 23 pairs of chromosomes, one half coming from the mother and the other from the father (each pair has two homologous genes at the same position, one per pair, known as an allele). Normally, only one of the two genes of an allele needs to function well for proper functioning. Well, in this case we speak of autosomal recessive because the two genes of that allele are wrong.

This is the reason why non-albino parents can have a child with this condition, because the parents are carriersEach one has an erroneous gene.

There are different types of albinism

Not all albino people have the same genetics, but there are different kinds depending on the gene that is affected. The truth is that not all of them lead to loss of skin and hair pigmentation, they only share the reduction of visual acuity by various alterations in the eye.

Classically, two main groups have been defined two main groups: oculocutaneous albinism (OCA) and ocular albinism (OA).. As the name suggests, the former affects the melanin in the eye as well as in the skin and hair, unlike the latter, in which only the melanin present in the iris is affected. The lack of pigmentation can also be associated with other serious organic alterations, as in Hermansky-Pudlak syndrome.

Currently Up to 18 genes are currently known to be involved, with 800 possible mutations.. For example, one of the most common types in the West is OCA1, and it is also the most severe, in which the affected gene is the one that synthesizes the enzyme tyrosinase (TYR). This protein is responsible for transforming the amino acid tyrosine into melanin in melanocytes. Logically, if the enzyme does not function, melanin is not synthesized in the body.

Problems involved

People with albinism who have a total or partial lack of melanin in the skin and hair have problems tolerating sunlight. They have a tendency to redden easily and the probability of suffering skin Cancer increases, so they need to protect themselves from the sun, either by clothing or adequate sunscreen.

Lack of pigmentation in the eye, a common characteristic of all types, produces photophobia, that is to say, they do not tolerate direct light well.. It is common to use sunglasses to protect your eyes from light. It should be added that albino people also have different visual anomalies that hinder their acuity, so one of their biggest problems is in their vision.

Albinos in the world

The worldwide frequency of albinism is low, 1 in 17,000 people. But there are different types, each with its own prevalence, and their degree of dispersion also depends on where in the world we are talking about. For example, in Japan there is a high prevalence of the OCA4 type, due to some inbreeding; and on the island of Puerto Rico, which is considered the country with the highest incidence of this genetic condition, there are many more people affected in its most dangerous aspect, that of Hermansky-Pudlak syndrome.

Africa is another example. The continent where albinos appear most frequently, moreover, does not make things at all easy for albino people: because of archaic beliefs, some cultures kill these people and cut them into pieces in order to to sell them to shamans for their incantations.. In the case of women it is even worse, since they are thought to have the ability to eradicate HIV through sexual intercourse, so they are raped and infected with the disease. In addition to the fact that Africa is the region of the world with the highest solar radiation, the quality of life of albino people is very poor.