What are the causes of albinism?

Resume

Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes. Occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural substance that gives color to your hair, skin, and iris of the eye. The defects may be passed down through families. The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color, as well as vision problems. Albinism does not usually affect lifespan. Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or bleeding problems. People with albinism may be limited in their activities because they can't tolerate the sun. Albinism is a genetic disorder caused by deficiency of tyrosine, since the defect is based on an autosomal recessive, autosomal dominant, X-linked or a spontaneous mutation of the enzyme, in some cases are not aware of specific gene

Alternatives names are oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome

Table of Contents Gratefulness.............................................................3 Thank our biology teacher for motivating and guiding us in this project developed.....................................3

Gratefulness
Thank our biology teacher for motivating and guiding us in this project developed

Introduction
Albinism is a genetic disease responsible for the partial or complete loss of pigmentation, that is to say, skin color, eyes or hair. It is caused by mutations affecting the melanocytes, the melanin pigment-producing cells that color these body parts. In individuals with albinism, certain genetic alterations in melanocytes prevent the synthesis of pigment or hinder their distribution to the keratinocytes, the main type of cells in the epidermis. Common forms of albinism oculocutneas correspond to variants of type 1 (OCA1) and type 2 (OCA2). OCA1 sufferers experience TYR gene mutations responsible for the production of tyrosinase, an enzyme used by cells to convert tyrosine, an amino acid in pigment. OCA2, which is the most common variant in Africa, resulting from a mutation in the OCA2 gene that encodes the P protein, a protein whose role is not just decoded. It is likely that this mutation is the oldest among the causes of albinism, it is believed, originated during the development of humanity in Africa. Almost all have OCA1 albino white skin, white hair and eyes without pigmentation. The iris, the colored circular region that surrounds the pupil, is colorless, and the pupil, red. This redness is caused by the reflection of light in the blood vessels of the retina, the light-sensitive coating that lines the inside of the back of the eye. Normally the pupils are black because the molecular pigments absorb light in the retina and prevent glare and go outside. Those with OCA2 may produce a small amount of pigment and therefore less pronounced eye symptoms.
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General purpose

Find the underlying causes of albinism

Specific objectives

Find that mutation causes albinism Study the types of albinism exist Find treatments that are used for this disease

Theoretical framework

Albinism is a genetic disorder mainly due to deficiency of tyrosine, from the standpoint of genetic disease based on defects is autosomal recessive, autosomal dominant, X-linked or a spontaneous mutation of the enzyme, in some cases not aware of the specific gene. Abin sufferers experience TYR gene mutations responsible for the production of tyrosinase, an enzyme used by cells to convert tyrosine, an amino acid in pigment. OCA2, which is the most common variant in Africa, resulting from a mutation in the OCA2 gene that encodes the P protein, a protein whose role is not just decoded. It is likely that this mutation is the oldest among the causes of albinism Tyrosinase encodes tyrosine, carries genetic information from one of the main enzymes responsible for the first step in the pathway of melanin synthesis; to be a shortfall in tyrosinase in melanocytes can not develop its stages which prevents melanin maturation occurs and reacting to stimulation of the sun. The melanocyte is a dendritic cell derived from neural crest and migrate to the epidermis and hair follicles during embryogenesis. Its main function is the production of melanin which is important cosmetic and sunscreen. In the melanocyte, tyrosinase synthesis of the complex and the formation of melanosomes is a parallel process that begins in the rough endoplasmic reticulum (RER). Tyrosinase passes the Golgi apparatus where it is activated by the presence of copper. Once activated cytoplasmic vesicles is who will join the melanosomes, which are based in turn on the RER as autonomous and once premelanosomes melanosomes are Level I and evolved into Level II melanosomes, which by being associated with cytoplasmic vesicles containing tyrosinase activated give rise to the level III melanosomes in which they will proceed to the synthesis of melanin. The melanosomes reach the level IV and lose their tyrosinase activity.

Tyrosinase coenzyme situations have normal melanocytes at the epidermal basal layer and contact with keratinocytes via their dendrites, it is estimated that there is a melanocyte for every 3640 keratinocytes (epidermal melanin unit) or one melanocyte for every 9 basal cells.

Classification of Albinism Albinism can be classified into several types as follows: Cutaneous or also called piebaldism It is the least common, is inherited as an autosomal dominant. People are characterized by skin and partially or completely depigmented hair, eyes without pigment deficiency in the iris and in some cases visually impaired. Eye-AO It is inherited by alterations or mutations in a gene on the X chromosome or genes involved which are not known with accuracy. The people are characterized by decreased pigment in the eyes, is sometimes accompanied by a slight deficit in the skin pigment and hair, deficient visual acuity, nystagmus (eye tremor side), photosensitivity, in some cases, partial blindness total and strabismus (deviation of one eye over the other or both). AOC-cutaneous Oculus Albinism is the most common and is divided into four types but retain in these four cases, the discoloration of eyes, hair and skin. AOC1 Produced by mutations or alterations in the tyrosinase gene that is located on chromosome 11, these defects are more common in Caucasian (white European Indo), and are divided into: Negative: Mutations or alterations in the tyrosinase gene that disrupts the production of pigment, that is, over time it does not obscure their pigmentation in general. Positive: Interrupts are a partial pigment production causes a mild pigmentation over time.
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 ACO2 Mutations or alterations in the "gen p" chromosome 15, is mainly in black people of African origin. ACO3 Associated with mutations or alterations in the gene for the tyrosine-related protein type 1. ACO4 Mutations corresponds to the "gene MAPT, is the most common in Japan. People at risk of inheriting albinism are: Children of parents who have albinism. Children of parents, who do not have albinism, but carry the altered genes that cause this disorder. A positive family history for albinism in a sibling or other relative. Puerto Rican ancestry (this significantly increases the risk of an atypical form of albinism called Hermansky-Pudlak syndrome). Albinism is rare. In the United States, about 1 in every 17,000 people in general has some form of albinism. All races are affected, but the AO occurs predominantly in Caucasians and the AOC in blacks. Most children with albinism are born to parents with normal hair color and skin to their ethnicity. There is no cure for albinism. There are treatments for the purpose of preventing or limiting symptoms. In some cases, specific treatment is needed for certain symptoms. Preventive Treatment Preventive treatment may include: Protect the skin: The risks of skin cancer and sunburn can be reduced to avoid sun exposure whenever possible. Use a sun protection factor (SPF) of 15 or more. Cover as much skin as possible with clothing when exposed to the sun with clothing or sunscreen. Protect the eyes Wear sunglasses with UV protection whenever exposed to the sun.
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 The Sunglasses (UV protected) may relieve photophobia. Specific Treatment of Symptoms Specific treatment of symptoms of albinism may include: For eyes: Eyeglasses, contact lenses and / or optical aids to help improve vision. Surgery to correct certain eye problems, including strabismus or ambliopata. Visual aids (in the classroom) to help children with albinism. For skin In case of developing skin cancer: surgery of the affected party before they develop metastases. These treatments can be especially important in Africa. The World Health Organization estimates that thousands of people live there concerned not have access to important medicines and preventive care.

Methodology

Date 07-19-10 07-23-10 07-24-10

Activity chose the theme We did the theoretical framework We finished our work

Did a search on the internet about the mutation that causes albinism as we believe that is a major issue.

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Discussion and analysis

Albinism is a genetic disorder caused by deficiency of tyrosine, since the defect is based on an autosomal recessive, autosomal dominant, X-linked or a spontaneous mutation of the enzyme, in some cases are not aware of specific gene Mutations have been found in the CHS1 (also called LYST) gene. The primary defect in this disease is found in certain granules normally present in skin cells and certain white blood cells. There are two main types of albinism:

Type 1 albinism is caused by defects that affect production of the pigment, melanin. Type 2 albinism is due to a defect in the "P" gene. People with this type have slight coloring at birth.

The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color, as well as vision problems. Another type of albism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye colors are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina). Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases. A person with albinism will have one of the following symptoms:

Absence of color in the hair, skin, or iris of the eye Lighter-than-normal skin and hair Patchy, missing skin color

Many forms of albinism are associated with the following symptoms:

Crossed eyes Light sensitivity

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Rapid eye movements Vision problems, or functional blindness

The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder. Treatment involves protecting the skin and eyes from the sun:

Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun. Sunscreen should have a high sun protection factor (SPF). Sunglasses (UV protected) may relieve light sensitivity.

Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements.

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Conclusions

Learned about the consequences that carry the mutation of genes in person. For example: albinism Knowing the symptoms that occur with this disease and how those affected can cope we learn more about mutations that occur in humans and how they affect our lives

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Bibliography
http://www.nlm.nih.gov/medlineplus/spanish/ency/article/0014 79.htm http://healthlibrary.epnet.com/GetContent.aspx? token=c905f6c8-fb81-4c5f-9ac557abe8fde16b&chunkiid=104026.

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Annexes

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