Mutation

Mutation means much more than change. When you check for mutations online, you will see so many definitions. In biology, the meaning of mutation is different. It has to do with the alteration in the sequence of DNA. 

DNA stands for Deoxyribonucleic Acid. It is found in chromosomes and the chromosomes are found in the nucleus of the cells. It is made up of two chains. These chains are polynucleotide chains and when they coil together they form a double helix. The double helix carries instructions concerning the genetics of an organism. The other functions of a DNA are:

• The DNA contains all genetic information that an organism needs to function.
• It also stores all traits that an organism inherits from its parents.

• When DNA is altered, the pattern it should follow is disrupted. This will lead to a different result than what was expected. The result of the disruption or the alteration is called a mutant. 
• The causes of mutation are broken into two;

1. They can be spontaneous or caused by environmental factors.
2. Spontaneous mutation happens in the body without any influences. It happens because of a mistake during DNA replication.

The mutations caused by environmental factors are called mutagens. Here are some types of mutagens:

• Radiation: Radiation like UV rays from the sun, tanning beds, and x-rays.
• Chemicals: some food preservatives like nitrates and chemicals from cigarettes and creams are mutagenic.

• Infectious agents: they can come from contaminated food or drinks, sexually transmitted diseases (STDs) and surroundings, and can cause mutation.

Types of mutation

Now the meaning of mutation, let us move to the types. There are three types of mutation. They are point mutation, chromosomal mutation, and copy number variation. 

• Point mutation: in this type of mutation, a nucleotide base is added, substituted, or removed from the DNA.
• Chromosomal mutation: this occurs due to the rearrangement of chromosome parts and change in the number of chromosomes present.
• Copy Number Variation: this is a type of mutation that happens because of the differences between the number of copies of a particular gene in humans. 

Effects of mutation

There are positive and negative effects of mutations. Most times, the effects of mutation are negative. It can affect some organs of the body. For example, it can cause color blindness. It can lead to health complications like genetic disorders. It can lead to some sicknesses like sickle cell anemia which is a mutation of the red blood cells. It can even lead to terminal diseases like cancer. Here are some diseases caused by mutation. These are grouped under genetic disorder:

Sickle cell anemia

This mutation makes the red blood cells to be deformed,  and not function as they should. The function of red blood cells is to deliver oxygen to the body. With this mutation, they break down and do not do as they should. Point mutation takes place in sickle cell anemia.

Cystic fibrosis

This mutation affects the lungs and the entire digestive system. The fluids produced by the lungs and digestive system become thick and block passageways making it difficult to filter the blood in the system and digest food. Point mutation takes place in cystic fibrosis.

Huntington’s disease

This affects the nerve cells in the brain. It slowly breaks down the nerve cells in the brain until they can no longer function as they should. It can lead to death. HTT mutation takes place here.

Hemophilia

This type of genetic disorder affects the blood. It prevents the blood cells from clotting normally. In case of an injury, either internal or external, there will be excess loss of blood. It can lead to death. Mutation in hemophilia A is caused by the F8 gene while that of hemophilia B is caused by the F9 gene.

Thalassemia

A person who has Thalassemia has fewer red blood cells and oxygen-carrying protein than normal. This is caused by the mutation of hemoglobin. It can be a substitution or deletion mutation depending on the type of thalassemia.

Allergic asthma

Allergic asthma happens when the body takes a harmless substance as a threat, then dispatches chemicals to fight the substance. A person with asthma may be allergic to tomatoes. Anytime he eats tomatoes, his body will fight the tomatoes as if it is a bacteria, leading to an asthma attack. Filaggrin mutation takes place here.

SNPs

Also known as Single nucleotide polymorphisms, SNP is included in every evolution level. They are triggers to diseases such as diabetes, migraine, cancer, blood pressure, e.t.c. They are used in the study of sequence variations and how it takes place in species. The type and region of substitution are not uniform throughout the given gene. The mutation here is somatic.

Conclusion

The mutation is the alteration of the sequence of the DNA. Mutation can be caused by internal or external factors. The internal factor is called spontaneous mutation and it happens due to mistakes during DNA replication. The external factors are called by the environment and are called mutagens. Mutagens include radiation, chemicals, and infections. Mutation can also be divided into three types: point mutation, chromosomal mutation, and copy number variation. Mutation has some beneficial effects but most of them are bad and life-threatening. Some diseases that happen as a result of mutation are sickle cell anemia, cystic fibrosis, asthma, hemophilia, and many others.