Albinism is caused by a genetic mutation that affects the production of melanin, the pigment responsible for coloring the skin, hair, and eyes. There are several types of albinism, with the most common being oculocutaneous albinism (OCA), which affects the skin and eyes.
The genetic mutations associated with albinism can affect various genes involved in the biosynthesis of melanin. For example:
- OCA1: Caused by mutations in the TYR gene, which encodes the enzyme tyrosinase, critical for melanin production.
- OCA2: Resulting from mutations in the OCA2 gene, affecting the function of a protein that plays a role in melanin production.
- OCA3: Linked to mutations in the TYRP1 gene, which also plays a role in melanin synthesis.
- OCA4: Caused by mutations in the SLC45A2 gene.
In addition to these, there are other less common forms of albinism, each associated with different genetic mutations.
Albinism is inherited in an autosomal recessive manner, which means a person must inherit two copies of the mutated gene (one from each parent) to exhibit the condition. People with albinism generally have a reduced level of pigmentation in their skin, hair, and eyes, which can lead to various health issues, particularly related to vision and increased sensitivity to sunlight.