Albinism: A Genetic and Social Interpretation

Albinism: A Genetic and Social Interpretation

Introduction

The effects of albinism have profound phenotypic distinctions that are visibly defining between those who are affected and those who are not. However, it is the cultural belief and social stigmas surrounding albinism that has brought attention to the mutation in recent media. Ostracizing, rape, and murders of albinos, have steadily increased over the years in the southern African continent. It is due to the myths, beliefs, and misunderstandings about the condition that has left room for stigmas surrounding the condition. Although, albinism is actually a result of six different mutated genes, the six mutated genes contribute to various types of albinism, the most common primarily seen in the mutation of tyrosinase-type genes.

Background

There are two types of melanin: eumelanin which contributes to the brown/black pigmentation, and pheomelanin which is the source for yellow/red pigmentation. Both of these melanin are dependent on the sulfur content and variations between these melanin are variable depending on the synthesizing of melanosomes. The melanosomes are important because they are synthesized within the melanocytes. The melanocytes are the primary cells contributing to the development of melanin which ultimately is responsible for pigmentation 3. Later, we will observe two different methods used to assess the effects of melanocytes in the human genetic makeup, the methods generally include the use of a statistical study including various participants, and others test individuals who are known to have the albino recessive gene, while other methods choose to interview those living with albinism.

Types of Albinism

Albinism has six variations, oculocutaneous ...

... middle of paper ...

...ion gene.1” It is affected in the genomic DNA region “15q11.2-q12,” and is said to experience 72 mutations. The OCA2 is actually a protein that similarly to OCA1 contains transmembrane in the “integral melanosomal protein. 2” Normally, the OCA 2 process would transport melanosomal protein like tyrosinase to melansomes however due to mutations, there is a mislocalization and does not transfer 2.

OCA3 albinism is primarily affected by the tyronsinase-related protein 1 or TYRP1. Interestingly, they are shown to stabilize tyrosinase and DOPAchrome activity.

Bibliography

Oetting, King, and Richard William. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.” Human Mutation. 13. (1999): 99-115. http://www.ncbi.nlm.nih.gov/pubmed/10094567 (accessed February 20, 2012).