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Most of us have heard of gene mutations, but what exactly does a gene mutation mean? Genes are components of DNA, and they follow a specific sequence. When that sequence is disrupted, it results in a gene mutation. Let’s take a closer look at how this happens.

Changes in the Genetic Code

Think of a double helix, the design that is often used to describe DNA. Strands of DNA are made by nucleotides, or molecules, that get strung together in a particular order. When protein synthesis happens, DNA is coded as RNA, which then produces proteins. When this code gets altered, it results in nonfunctional proteins and genetic mutations. Gene mutations can sometimes lead to diseases, and there are two specific types of genetic mutations that exist.

Base-Pair Substitutions, Insertions, and Deletions

The most common gene mutation is a point mutation, also known as a base-pair substitution. Point mutations occur when a single base pair of nucleotides is altered. Sometimes, it results in a different protein, and sometimes, it doesn’t. There are other times when the nucleotide base pair is deleted, or another one is inserted into the DNA strand. This changes the amino acid that is produced, rendering them useless.

Why do genetic mutations happen? One explanation is that an error occurred during the cell division of mitosis or meiosis. This can cause the genetic code to have missing or extra chromosomes. Another explanation is environmental factors, such as exposure to radiation, UV light, and certain chemicals. It’s why the plants and flowers near leaked nuclear facilities end up deformed.

Genetic Mutation Studies

We know that just about every disease is due to genetic factors. It could be an extra gene, a missing one, or some other change to the code. Even so, there are still some genetic diseases for which we haven’t been able to find a direct cause.