Genes and How They Can Affect Health and Development

In order for each cell in the body to function properly, they depend on thousands of different proteins to function properly and at the right times. Sometimes when a gene is mutated, one of more of the proteins in the body will be prevented from working properly. When a gene’s instructions to make a protein are changed, the mutation can cause the protein to be either missing entirely or malfunction. When a protein that plays a major or critical role in the body is altered by a mutation, a medical condition can occur or it can disrupt normal development. When one or more gene mutations causes a condition, it is known as a genetic disorder. Genes affect health in a number of ways.

Genetic Disorder Basics

Genes themselves are not what causes disorders and diseases. Mutations that result in a gene not functioning properly are what cause genetic disorders. For example, a person who is said to have the “cystic fibrosis gene” actually has a mutated version of the CFTR gene. When the CFTR gene is mutated, it can cause cystic fibrosis. Every human being has a version of the CFTR gene, but not everyone has a mutated one.

Severe Gene Mutations