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Understanding the mechanisms of life

DNA controls biological structure and function in all living things. DNA techniques allow scientists to examine these control mechanisms and determine what happens when they fail:

• The genes BRCA1 and BRCA2 code for proteins that prevent tumor formation. People who have mutations in these genes are more prone to develop breast cancer than those who do not have such mutations.
  
  
• The gene TTN codes for the largest known protein in the human body—titin, which forms our muscle tissue. Mutations in this gene cause some cases of hypertrophic cardiomyopathy, the excessive thickening of heart muscle. Symptoms of this disease include chest pains and palpitations.
  
  
• SOD1 codes for the natural antioxidant, superoxide dismutase. Along with other antioxidants such as Vitamins E and C, superoxide dismutase breaks down reactive chemicals that would otherwise accumulate in our body to damage our cells, proteins, and DNA.

  A mutation in the SOD1 gene is associated with the Lou Gehrig disease, a condition in which the nerves controlling muscle function become dysfunctional. This disease is named after the baseball player who was forced to retire after the disease caused him to lose motor control.
  

For an additional resource on human genes and how they work, visit The Wellcome Trust’s The Human Genome: Your Genes, Your Health Life, Your Future.