What is a frameshift mutation?

Frameshift mutation is a genetic defect that results in the production of abnormal, often non -functional proteins. The error in the genetic information sequence causes the cell protein machine to combine the amino acids together in the wrong order. Fameshift mutations are associated with a number of different human diseases, including Tay Sachs' disease.

To understand why the frame mutation can cause disease, helps to understand the basics of how proteins are performed. The code for all proteins is in deoxyribonucleic acid (DNA) stored in cell nuclei and this DNA consists of connected molecules known as nucleotides. To create a protein, the first step for a molecule known as Messenger ribonucleic acid (MRNA) to form a copy of the bottom. MRNA then travels outside the core and is converted from a nucleotide sequence into an amino acid chain using structures known as ribosomes, in a process known as translation. Protein is made up of these amino acid chains. Is importanté maintain the integrity of codons so that the ribosome can combine the right amino acids together and create the right protein. When the frameshift mutation occurs, there is an error in the MRNA sequence, which results in incorrectly reading codons.

For example, a possible MRNA sequence can be uuuaaagg, where each letter represents nucleotide. Normal codons would therefore be Uuu, AAA and GGG. If an error occurs in MRNA, this may result in a sequence of GuuuaAagg. Ribosome would read codons like Guu, UAA and AGG, because the reference frame was shifted by another nucleotide. As a result, either incorrect amino acids would be connected and incorrect protein would be produced, or the codon may be read as a stop signal to reduce protein prematurely.

There are a number of different ways to mutate the frame. This could occur by inserting one nucleotide, or it could also be a result of nucleotide deletion. If bThree nucleotides are deleted, it would not be considered a frame mutation, because the codons that come after the mutation are read normally and have not been shifted from their normal images.

Many different human diseases can result from mutation of framework. Tay Sachs' disease, a inherited condition that usually leads to death at a very young age may be caused by a framework mutation. Genetic mutations can also be associated with the development of more common diseases such as various types of cancer.