MyHappyGenes Genetic Mechanics

Mutations and Disease

Proteins play a crucial role in how parts of your body function. If genes that impact the creation of proteins have mutations, the rest of the body may not work properly. This can cause the entire body to have larger issues. These types of issues can also be caused in different ways. 

There is a new copy of your genes that is made in every new cell that your body creates over the course of your life. Issues can arise when these copies have mistakes. One of the potential issues that can occur is when gene changes make a person more likely to develop cancer. 

In addition to these issues within copies, your environment can also lead to changes to DNA inside of cells. One example of this is how the sun can damage DNA in cells that are exposed to the ultraviolet light. If the damage to these cells is not repaired, the genes changes can be copied when your body creates new cells. 

While you may have heard that someone can have “a gene for” a condition, this is not actually true. When a gene is said to cause a disease, it is actually the genetic mutation that causes the disease. Typical genes work to create a healthy normal state, but a mutation of the gene may cause health issues. An example of this occurs with the CFTR gene. Although everyone has the CFTR gene, only individuals with a mutation in the CFTR have cystic fibrosis which is considered a genetic disease.

Although mutations are possible, the cell system in the body, which is responsible for making copies of genes, normally functions well. The cell system protects against the many issues that are bound to occur since the body creates billions of new cells throughout a lifetime.Genes can still function properly, or well enough to work, even when they are not copied perfectly. 

There are only a small amount of mutations that can cause a genetic disorder. Also, your body can sometimes repair genes to help protect the body from diseases. Additionally, mutations can also have a positive effect at times. Although it is rare, gene mutations can result in resistance to diseases.

Most diseases and health conditions are related to genes and gene mutations. While some mutations may occur in a single gene, other disorders tend to be more complex. Diseases like diabetes and heart disease are caused by issues with multiple genes in combination with environmental factors and lifestyle choices. 

Other Mutations

One form of mutation occurs when genes are copied incorrectly. We also have several other genes. Everyone also has two copies of each gene, one from each parent. In certain situations, people can be born with one, three, or more copies of a single gene. 

However, it is also possible for an entire gene to be missing. This genetic difference is referred to as a copy number variation (CNV). It is important to understand that while missing a gene can cause a health issue, extra copies can also result in problems. This can be compared to having many people in a single space all trying to do the same job at the same time. 

Your body stores genes in chromosomes which are large groups of genes that are located in the middle of nearly all of your body’s cells. Humans have 23 pairs of chromosomes, a total of 46. However, some people may have an extra copy of a chromosome or could also be missing one. If a chromosome gets broken, an extra piece can end up in one cell but be missing from another cell. This is similar to having a missing or extra copy of a gene, but typically happens in larger groups of genes. These types of changes may cause issues with development, growth, or overall functions in body systems. 

Most diseases and health conditions are related to genes and gene mutations. While some mutations may occur in a single gene, other disorders tend to be more complex. Diseases like diabetes and heart disease are caused by issues with multiple genes in combination with environmental factors and lifestyle choices. 

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