What is Mutation
All the humans, who belong to the family of humans, possess the same type of genetic sequences which have undergone certain minor changes in order to create individuals with unique features.
A Mutation is a variation which takes place in our DNA sequence, either as a result of a mistake during the process of copying and multiplication (DNA replication) or long term exposure to various environmental conditions like UV rays, and Nicotine smoke.
These mutational processes usually have a very good impact on us, even though there are a few non-favorable occasions when the changes taking place in genes are associated with proteins which are related to pathological conditions.
In this article, we are going discuss about one of those health conditions which take place as a result of a genetic mutation.
What Type of Mutation is Albinism
Albinism is defined as a group of inherited disorders due to genetic mutation, characterized by reduced or absent production of the skin pigment known as Melanin. Melanin is the pigment which decides the color of our skin, hair and eyes. A person with albinism has unnaturally white skin, brown-white-gold hair including hair on scalp and the body and slightly pale eye shade. In addition to these significant traits, most people with albinism have impaired vision with an extremely sensitive skin to rays from the sun, which may possibly result in skin cancers later in life.
Unfortunately, there is no permanent cure for albinism, but affected individuals can take preventive measures to protect their skin from sun rays and maximize the vision by timely medical care. Psychological and social support for these individuals are also highly important since there is a potential stigma of social isolation and discrimination.
What Gene is Affected by Albinism
Albinism is caused by a mutation of a gene which is responsible for determining one of the several proteins, necessary to produce the pigment-Melanin found in skin and eyes.
There are various types of Albinism categorized, based on the mutated gene:
This is caused by a mutation of one of the four genes responsible for producing Melanin. There are two main types of Oculo-cutaneous Albinism as OCA1 and OCA2.
People with OCA type 1 have a milky white skin and hair, with blue eyes at birth. Eyes may possibly develop into a slightly normal color with age due to an increase production of Melanin.
Individuals affected by OCA type 2 have yellow, ginger or red hair, blue-gray or tan eyes with white skin at birth which is highly vulnerable to develop freckles, moles, or lentigines with the long-term exposure to sunlight.
X-linked Ocular Albinism
This is a common type of albinism which has a significant male predominance due to a mutation on the X chromosome. Affected individuals will experience with impaired vision, but their skin, hair and eye color will remain intact.
This is a very rare type of albinism occurring due to a mutation of a gene known as LYST or CHS1 (which determines the production of Lysosomal trafficking regulator). Affected individuals will experience impaired vision, brown to blond hair, creamy white to grayish skin and increased susceptibility to infections due to reduced white cell count.