Diseases Diseases

About Mutation And Diseases

Published at 04/02/2012 13:38:29


Mutation is characterized by change. In the special field of genetics, mutations describe changes that intervene at the base of the genomic sequence, that is to say the DNA sequence of a cell’s genome or the DNA or RNA sequence of a virus. Anyhow, while some of the mutations, nowadays, represent hard work of the scientists, the original mutations refer to sudden and spontaneous changes in the cell. These changes are caused by various factors – radiation, viruses, transposons, mutagenic chemicals as well as some errors that occur during DNA replications.

Mutation types

Mutations can involve large sections of DNA that become duplicated with the help of genetic combination. These duplications become afterwards a source of raw material for the future new genes. There are the small scale mutations, which affect a small gene in one or few nucleotide – these are known as transitions or transversions. These are the point mutations, the silent mutations, the missense mutations, the nonsense mutations, the insertions or the deletions. The large scale mutations are as well divided in various types, such as amplifications, chromosomal translocation, chromosomal inversions and loss of heterozygosity. All these large scale mutation imply modifications done at chromosomal level. Some other mutations are loss-of-function mutations, gain-of-function mutations, dominant negative mutations, lethal mutations and a reversion. Anyhow, the biggest categories of mutations that exist are the harmful ones and the beneficial ones.

Born mutations

One’s DNA is constantly subjected to changes, ever since one’s first lifetime years. There is no person in this world that has a perfect DNA. We all begin our lives with some mutations. These are inherited from our parents and are known as germ-line mutations. During the life of one there are various mutations that one will suffer. While some happen during cell division, some are caused when the DNA gets damaged by environmental factors, such as UV radiation, chemicals and viruses you are exposed at. Anyhow, it is known that some of the mutations that happen during your life, are with no effect at all, that is why they are called silent mutations.

Anyhow, one hears more often about mutation diseases and that is when one realizes he is subjected to inherited mutations. These mutation diseases are from the inherited genetics and form cystic fibrosis, sickle cell anemia, tay-sachs disease, color blindness and many others. Anyhow, in order for a person to inherit one of the mutation diseases, one has to inherit two copies of the mutated gene to inherit a certain disease. This stays at the root of the rule that two relatives should not marry between themselves.


Other mutation diseases

The mutation diseases do not refer mainly to a medically defined range of diseases, but to those diseases that have the DNA mutation as one of the multiple causes that stands at its base. This being taken into consideration, there are a wide variety of mutation diseases that exist. Therefore, there is the heart and muscle disease, breast and ovarian cancer, Alzheimer’s disease, etc. Anyhow, whether one has a DNA mutation it does not necessarily mean that he will by default develop that disease. In case one has knowledge of what one is disposed to, he can take action into preventing the mutation develop.