Albinism isn't caused by a single cell type, but rather by a genetic defect affecting melanocytes. Melanocytes are specialized cells responsible for producing melanin, the pigment that gives skin, hair, and eyes their color. A change in one of the genes that control melanin production leads to albinism. Different types of albinism exist, depending on which gene is affected.
Understanding the Role of Melanocytes
- Melanin Production: Melanocytes synthesize melanin, a crucial pigment determining the color of our skin, hair, and eyes.
- Genetic Basis of Albinism: Albinism arises from genetic mutations impacting the functionality of melanocytes and their ability to produce melanin. These genetic changes can affect various genes involved in melanin synthesis.
- Types of Albinism: The specific gene mutation determines the type and severity of albinism. For instance, oculocutaneous albinism (OCA) encompasses several subtypes, each linked to a different gene defect.
The provided references consistently highlight that albinism results from a genetic change affecting melanin production, rather than a malfunctioning cell type itself. The malfunction is in the genes that instruct the melanocytes. The melanocytes are still present, but they don't function correctly due to genetic error.