A Guide to the Different Types of Genetic Mutations
Variations in gene sequence and structure are of vital importance to our staff at MelixGXTM. Our team is able to break down a person’s genetic code and use it to obtain vital information regarding optimal cannabis, wellness, and lifestyle choices.
As humans, we share a large portion of our DNA with one another. In fact, our DNA sequences are all 99.5% identical. The remaining 0.5% contains the unique genetic information that makes you an individual.
The human genome, or the complete genetic material contained in each cell, consists of over 3 billion building blocks. These building blocks known as nucleotide bases come in four varieties. While building with only four bases may seem like a simple set up, these building blocks combine magnificently in complex sequences and structures in order to function as the blueprint of an organism's development and functioning.
With the billions of bases in a single human genome, it is easy to see how there could be many types of mutations. Genetic mutations can have quite a significant impact on our internal functioning and physical appearance. All types of genetic mutations share one common thread. They are permanent changes to DNA that are not found in a majority of people.
The different types of mutations create the beautiful variations of human appearance and functioning. Being born with blue eyes is a very common example. This mutation is thought to have appeared in more recent history and is associated with a change in only two nucleotide bases. That is two out of 3 billion! Another common mutation causes the red flush that some people experience with alcohol. We are not talking about slightly red cheeks after a few too many drinks. This response can happen with just a sip. A change in one single nucleotide leads to alcohol being poorly tolerated by a portion of the population. These “common” human variations can be attributed to natural selection or genetic drift. Because these specific mutations occur in over 1% of the population, they are known as polymorphisms indicating that they are normal human variations.
There are two major forms of mutations: hereditary and spontaneous mutations. Hereditary or germ-line mutations occur in germ cells, eggs or sperm. As the egg and sperm come together, the mutated genetic material will be carried on by the fertilized egg. In the case of hereditary mutations, this genetic alteration will influence every cell of the organism’s body. Other mutations can be “acquired” due to environmental or internal factors. These mutations are known as spontaneous mutations. As a rule, these mutations will impact a single cell although it can make an appearance in several cells through reproduction.
De novo mutations are a specific style of mutation that can be either hereditary or spontaneous. These mutations indicate an alteration either in one of the germ-cells from the parent or a variation that appears in the fertilized egg. If the mutation appears in the germ-cell prior to fertilization, the mutation is hereditary. If the mutation occurs post fertilization, then it is considered spontaneous. It can be nearly impossible to identify when the de novo mutation occurred, and either way, these mutations are associated with neurodevelopmental conditions such as autism and are implicated as a cause of cancer
What Causes Mutations and Factors Involved in Genetic Mutations
Mutations create genetic change that helps shape evolution, disease, and many factors associated with an organism's quality of life. Posing the question of “What causes mutations?” is a natural step along the way to understanding evolution and human health.
As we discussed above, mutations indicate a permanent change in the sequence or structure of our DNA. These changes can take on several forms. Substitution mutationschange out one nucleotide base for another. Our genes guide the production of proteins and substitution mutations can result in an alteration in the protein produced by that portion of the genetic code. Alternatively, these alterations could still produce identical proteins to the original sequence or create inactive proteins. Proteins are vital to the functioning of our system; and if they aren’t working properly, it can have serious impacts on the human system.
A deletion mutation and its counterpart the insertion mutation are similar to the substitution mutations discussed above. In these mutations, bases are either added to or removed from the DNA chain. This addition/subtraction process will naturally alter the length of the DNA sequence. These insertions or deletions can involve single bases or entire genes that dictate important developmental processes. There are a host of mutation types to be examined but these three create a basic understanding of how mutations appear on a genetic level. These alterations of the genetic code will inevitably lead to changes in the external traits of an organism.
Mutations can occur due to several factors including errors in the reproduction of DNA, damage to and the repair of genetic material, and the movement of specific sequences of DNA within the genome. DNA replication can lead to small mistakes that create an imperfect copy of the genetic material. This minor alteration is a mutation. When DNA is damaged by environmental factors such as oxidative stress, pollutants, and UV exposure, the DNA needs to be repaired. As the cell repairs its DNA, the mutations/changes can occur. Finally, specific portions of the genetic code known as transposable elements can also change their position in the genome creating mutations.
The changes in our DNA sequence can make massive differences in our life experience. Utilizing the powerful information provided by your DNA, MelixGXTM can help you work with the challenges of daily life. Through DNA analyzation both MelixFitTM and MelixMJTM can lead to dramatic positive changes in your life. Melix stands at the cutting edge of wellness, and we are proud to support our customers on the road to empowerment and healthy development.