What kind of problems can mutations cause?
Some mutations result in proteins that do not function normally, and may end up causing disease. There are several ways that gene mutation can change the way a protein functions, including: • Altered function: Some mutations result in a protein that cannot carry out its normal function in the cell, or cannot carry out that function very well. One example of this type of mutation is sickle cell anemia. In this disorder, an altered protein in red blood cells alters the shape of the red blood cell, which causes the cell to become stuck in blood vessels. This prevents cells from carrying sufficient oxygen to the rest of the body. • Lack of protein: Some mutations prevent the protein from being made. One example of this type of mutation is hemophilia. In this condition, a mutation results in the absence of a protein that causes blood to clot. The result is uncontrolled bleeding in response to injury. • Change in how much protein is made: Some mutations cause too much or too little of a norm
