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