- slide 1 of 6
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.
- slide 2 of 6
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.
- slide 3 of 6
Severe Gene Mutations
Some gene mutations are so severe that it results in an embryo not surviving until birth. When genes affect health this severely, the embryo does not live long enough to go through the nine months of development associated with a normal pregnancy. Severe gene mutations happen within genes that are absolutely necessary for development, resulting in the development of an embryo going through its earliest stages being disrupted. The very serious effects of these mutations are so serious, they are incompatible with life.
- slide 4 of 6
Do All Gene Mutations Cause Health and Development Problems?
No, most gene mutations do not have a negative impact on health or development. In fact, only a small percentage of genetic mutations result in genetic disorders. For example, some gene mutations will alter the base sequence of DNA, but will not change how the protein made by the gene functions. DNA can become mutated or damaged in a number of ways, so DNA repair is an essential process that the body performs to protect itself from disorders and diseases.
On the other hand, only a small percentage of genetic mutations produce a positive effect. New proteins are produced by these mutations, helping an organism, as well as its future generations, adapt to environmental changes better. For example, a positive gene mutation could result in creating a protein that is able to protect an organism from a bacteria strain that is new.
- slide 5 of 6
Genetics Home Reference. (2010). How Can Gene Mutations Affect Health and Development? Retrieved on August 12, 2010 from Genetics Home Reference: http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/mutationscausedisease
Genetics Home Reference. (2010). Do All Gene Mutations Affect Health and Development? Retrieved on August 12, 2010 from Genetics Home Reference: http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/neutralmutations
Genetics Home Reference. (2010). Can a Change in the Number of Genes Affect Health and Development? Retrieved on August 12, 2010 from Genetics Home Reference: http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/copynumbervariation
- slide 6 of 6
Embryo at 12 Weeks: X.Compagnion – Wikimedia Commons