The DNA contained in each of the cells in your body contains all the information necessary for the development and functioning of an organism. Therefore, any defect located in the genetic material can degenerate into malfunction and health problems.
A clear example is albinism : 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 Copito de Nieve, the albino gorilla at the Barcelona Zoo) and in plants. In the latter case, they lack other types of pigments, such as carotenes, since they do not naturally present melanin.
However, the lack of pigmentation is not the only characteristic of this alteration. Albino people, in fact, have many problems associated both biological and social.
The function of pigments
Pigmentation in humans It is in charge of cells known as melanocytes which manufacture the two types of melanin inside them from the amino acid tyrosine: eumelanin (dark) and pheomelanin (light).
The combination in different proportions of these two creates the range of eye, hair and skin colors. Its main function is to protect the rest of the cells against ultraviolet light, which is harmful to DNA.
The genetic causes of albinism
albinism has an important genetic component which presents an autosomal recessive inheritance. It is simple to understand: our genetic material is made up of 23 pairs of chromosomes, one half comes from the mother and the other from the father (each pair has two homologous genes in the same position, one per pair, which is known as an allele). . Normally, only one of the two genes on an allele needs to work well for proper functioning. Well, in this case we talk about autosomal recessive because the two genes of that allele are wrong.
For this reason, it is explained how non-albino parents can have a child with this condition, since parents are carriers each one has a wrong gene.
There are different types of albinism
Not all albino people have the same genetics, but there are different types that depend on the gene that is affected. The truth is that not all of them lead to the loss of skin and hair pigmentation, they only share decreased visual acuity due to various alterations in the eye.
Classically, they have been defined two large groups: oculocutaneous albinism (OCA) and ocular albinism (OA) As its name indicates, the first affects the melanin of both the eye and the skin and hair, unlike the second, in which only the melanin present in the iris is affected. Lack of pigmentation can also be associated with other serious organic disorders, such as Hermansky-Pudlak syndrome.
At the moment Up to 18 genes are known to be involved, with 800 possible mutations To give an example, one of the most common types in the West is OCA1, in addition to being 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 within melanocytes. Logically, if the enzyme does not work, melanin is not synthesized in the body.
Problems that come with
People with albinism who have a total or partial lack of melanin in their skin and hair have problems tolerating solar radiation They are prone to redness and the probability of suffering from skin cancer increases, so they need to protect themselves from the sun, either with appropriate clothing or cream.
The lack of pigmentation in the eye, a common characteristic of all its types, It produces photophobia, that is, it does not tolerate direct light well It is common to use sunglasses to protect your eyes from light. It must be added that albino people also present different visual anomalies that hinder their acuity, which is why one of their biggest problems is their vision.
Albinos in the world
The worldwide frequency of albinism is low, 1 in every 17,000 people. But there are different types, each with its prevalence, and its degree of dispersion also depends on the part of 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, furthermore, does not make things easy for albino people: due to archaic beliefs, some cultures kill these people and cut them into pieces with the aim of sell them to shamans for their spells In the case of women it is even worse, since it is thought that they have the ability to eradicate HIV through sexual intercourse, which is why they are raped and infected with the disease. Adding this to the fact that Africa is the region in the world with the highest solar radiation, the quality of life of albino people is terrible.