Cell Mutation Diseases

A mutation is any change to our DNA. A gene is a section of DNA which codes for a particular protein. When there is a change to the DNA in a gene, the protein produced by that gene may be nonfunctional or it may work differently than it's supposed to, which can lead to illness or chronic disorders.

Types

• Disorders caused by mutations (genetic disorders) can be caused by a mutation in a single gene. Disorders can also be multifactorial, which means they result from mutations in multiple genes and sometimes an interaction with environmental factors.

Single Gene Disorders

• Disorders caused by a mutation in a single gene include sickle cell disease, phenylketonuria (PKU) and Smith-Lemli-Opitz syndrome (SLOS).

Multifactorial disorders

• Multifactorial disorders include Down syndrome, cystic fibrosis, hypothyroidism, Klinefelter syndrome, Cri-du-Chat syndrome and cancer. (See reference 1)

Effects

• According to Emory University, cancer is not the result of a single mutation, which is why most cancers occur later in life. An accumulation of mutations to the genes that control cell division or tumor suppression occurs over time.

Considerations

• Mutations can be beneficial. According to work published in the journal Proceedings of the National Academy of Sciences of the United States of America in 1998, people who are carriers for sickle cell disease but do not have the disorder have an advantage in being resistant to infection by the malaria parasite. As the body rids itself of sickle cells during natural immune response, the malaria parasite is killed as well.