Gene Mutations

Introduction

Any sudden heritable change is called mutation. Gene mutations are the changes that occur in one or more genes that can lead to harmful diseases or illnesses. Genes can be defined as small portions of the DNA, knob like and present in a single linear row over the chromosomes. These  determine the traits, characteristics, height, body type, and other attributes of an individual. 

The potential risk factor of a person developing a certain disease or illness in the later period of their life is dependent on the genetic combinations of the person. Every individual has approximately 24,000 different types of genes.

Gene mutations can occur due to the following reasons:

• Changes or shifts in one or more nucleotides of the DNA.
• Shifting or alteration of one or more genes.
• Shifting or alteration in the genes or the chromosomes as a whole.
• Loss of one or several genes at a time.

Types of Mutations

The changes or alterations in the DNA or RNA sequences are known as mutations. Mutation is a common occurrence or phenomenon, and every individual goes through several mutations in their lifetime, though the changes made may not be visible in a lifetime. 

Mutation is the basic key to evolution. Studies have shown that gene mutations in species are the basic reason for their survival. Every species on this planet has gone through centuries of evolution for the basic purpose of survival and adaptation.

Mutations are the optimal source of new and improved genetic substances known as new alleles in various species. Although the mutation process can bring about positive changes or alterations in the bodies of species, certain types of mutations provide more harm than good.

Mutations in the DNA, chromosomes, or genes can occur due to error in the process of replication or overexposure to the harmful UV rays of the sun, which can also lead to the harmful skin disease of melanoma. 

Also, certain forms of genetic mutations can lead to the development of long-term diseases or illnesses such as cancer.

Mutations are of various types, but the two most prominent types of mutations are as follows:

• Somatic Mutations: Somatic mutations occur particularly in one cell of the body and its daughter cells, and they pose little to absolutely no harm in the individual’s body. The somatic mutations cannot be transmitted to the offspring from the parents’ genes. For example epilepsy and intellectual disability
• Germline mutations: Germline mutations occur in the germ cells of the male and female individuals, also known as gametes. This type of mutation can be transmitted to the offspring from the parents, and every cell in the offspring will depict similar mutations in their cells as their parents.For example cystic fibrosis and breast cancer, ovarian cancer and melanoma

Mutations can also be differentiated based on the changes they cause in the cells of the individuals. The mutation process can alter the elements or structure of the chromosomes altogether, or it might cause alteration in a single nucleotide.

Types of Gene Mutations

Gene mutation refers to changes or alterations in the structure or elements of the genes. The process of gene mutation can alter the characteristics and traits of an individual, while elemental or structural alterations in the chromosomes can lead to abnormality of the genes.

Mutations or changes in the polynucleotide sequence of the gene, which can lead to structural alterations in the functioning of the gene, are known as gene mutation. 

Gene mutations are of the following types:

• Insertion: This type of gene mutation leads to the addition of a base in the gene sequence. This type is also more commonly known as addition mutation
• Point mutation: Alteration or change in the DNA base is known as a point mutation. This gene mutation is also more commonly known as single nucleotide polymorphism
• Inversion: This type of gene mutation is characterised by alteration in the gene sequence by the process of inversion when the gene sequence is pushed back into its original sequence
• Deletion: This type is self-explanatory; the base of a gene sequence gets deleted in these types of gene mutation
• Duplication: This gene mutation is characterised by duplicating the gene sequences
• Substitution: This type of gene mutation involves the replacement of certain bases of the gene sequence with other bases within the same gene

Some of the other types of gene mutations are as follows:

• Frameshift mutation
• Nonsense mutation
• Mis-sense mutation
• Silent mutation
• Copying error
• Backward mutation
• Forward mutation

MTHFR Gene Mutation

The process and creation of amino acids in the body, the building block for protein, is instructed by the MTHFR gene, which produces an enzyme called methylenetetrahydrofolate reductase.

The mutation of the MTHFR gene can cause an increase in levels, which can cause alterations in the production of amino acids in the body, which can further lead to blood clotting in the blood vessels and clotting in the arteries.

Due to this reason, modern science is now paying more attention to MTHFR gene mutation, and medical specialists are stressing more on the testing of MTHFR mutation.

MTHFR mutation symptoms:

Mutation of the MTHFR gene can cause some of the following conditions or illnesses to surface:

• Cardiovascular diseases
• Anxiety
• Depression
• Nerve pain
• Migraine
• Miscarriage in women
• Schizophrenia
• Bipolar disorder

Conclusion

Gene mutation can be defined as alteration or changes in the sequence of a gene, which is crucial for the development and growth of the species. In worst-case scenarios, it can also cause the development of long-term diseases or illnesses.

There are various types of gene mutations, and most of them cause alterations in the structure of the chromosomes of the cells. Mutations in the DNA, chromosomes, or genes can occur due to error in the replication process or overexposure to the sun’s harmful UV rays.