What is a Genetic Mutation? Definition & Types (2024)

How do genetic mutations affect other organs?

A genetic mutation changes the information your cells need to form and function. Your genes are responsible for making proteins that tell your body what physical characteristics you should have. If you have a genetic mutation, you could experience symptoms of a genetic condition because your cells are doing a different job than they should be.

Symptoms of genetic conditions depend on which gene has a mutation. There are many different diseases and conditions caused by mutations. The signs and symptoms you experience could include:

  • Physical characteristics like facial abnormalities, a cleft palate, webbed fingers and toes, or short stature.
  • Problems with cognitive (intellectual) function and developmental delays.
  • Vision or hearing loss.
  • Breathing problems.
  • Increased risk of developing cancer.

Are genetic mutations bad?

Not all genetic mutations lead to genetic disorders. Some genetic mutations don’t have any effect on your health and well-being. This is because the change in the DNA sequence doesn’t change how your cell functions.

Your body also has enzymes, which are a substance that creates chemical reactions in our body. These enzymes help your body protect itself from disease. Enzymes can repair a variety of genetic mutations before they affect how a cell functions.

Some genetic mutations even have a positive effect on humans. Changes in how cells work can sometimes improve the proteins that your cells produce and allow them to adapt to changes in your environment. An example of a positive genetic mutation is one that can protect a person from acquiring heart disease or diabetes, even with a history of smoking or being overweight.

How do genetic mutations lead to genetic variations?

A genetic mutation is a change to a gene’s DNA sequence to produce something different. It creates a permanent change to that gene’s DNA sequence.

Genetic variations are important for humans to evolve, which is the process of change over generations. A sporadic genetic mutation occurs in one person. That person passes their genetic mutation onto their children (hereditary), and it continues for generations. If the mutation improves that person’s chance of survival, or freedom from disease, then it begins being passed through generations and spread through the population. As the mutation passes from generation to generation, it becomes a normal part of the human genome and evolves from a gene variant into a normal gene.

What is a Genetic Mutation? Definition & Types (2024)
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