Single Point Mutation

The Possible Impact of a Single Point Mutation on Protein Cells

The Single point mutation has been studied by scientists for years, and its effects on the chains of amino acids that generate various proteins are well-documented. However, the possible combinations involved with applying single point mutations to the genetic makeup of certain organisms can be quite vast. Understanding how single point mutations express themselves at an amino acid level can, therefore, be of outstanding importance, especially considering the practical advantages of using point mutations as part of transgenic mouse model experiments.

The Specific Qualities of Point Mutations

A single point mutation occurs when a single base pair is substituted with another within the DNA, leading to one of a number of different possibilities, with regards to mutations at the protein level. Depending on the nature of the change, the codon expression that results can vary from the original, leading to a significant change in the resulting protein. Such missense amino acid changes can lead to an energetic and chemical balance throughout the entire organism. As a result, the protein losing its main function can lead the body to disease. In many cases, the development of a similar or the same amino acid will not lead to anything serious. However, in the case of missense mutations, this isn’t the case, and cancer is one of the main disorders that can result from such a change.

An Example of Point Mutations Gone Wrong

A good example of what a single point mutation can lead to happens in the case of converting the GAG codon into GUG. This would lead to the encoding of amino acid valine instead of glutamic acid. In some cases, an activation of the RAF protein is also possible due to the protein exhibiting a gain of increased function. When that happens, unlimited proliferative signaling in cancer cells can lead to the development of a severe form of cancer.

Differences Between Multiple and Single Point Mutations

Point mutations can actually occur not only in the DNA, but in the RNA as well. In humans, the double-stranded DNA and RNA are complementary in their function of generating the vital amino acids required for cells to thrive. However, when a multiple or single point mutation occurs, the result can lead to an alteration (or more) that can be difficult to trace or to fully comprehend. The difference between multiple and single point mutations is that the point mutation only alters one base of nucleotides, while the multiple one can also affect entire sections of chromosomes. Multiple mutations can also occur in a single strand of DNA or RNA.

Using Targeted Single Mutations

Single point mutations can and have been used for a variety of different applications. In most cases, they are used in transgenic mice to help develop simple, easy to obtain but also highly targeted changes in the DNA encoding that accounts for certain diseases or their absence. As a result, the use of a single point mutation can lead to anything from the development of prostate cancer to proliferations and immune system deficiencies that can then be studied and treated through various new methods.