What it means to have a mutation and what role mutations play in Huntington’s disease.
With their sword-wielding, karate-chopping, and pizza-eating ways, the Teenage Mutant Ninja Turtles swept American children by storm in the early 1990s. Unfortunately, though they did get kids to sit still for 30 minutes each day, the turtles also contributed to a widely held public misconception about what it means to have a mutation. From watching their television program, one might think that people with mutations will grow green skin and begin a new life in the city’s sewer pipes. In reality, though, there is nothing out of the ordinary about mutations. In fact, every person in the entire world has some sort of mutation in his or her DNA; in that sense, everyone is a mutant! Mutations are not just normal, they are important: evolution itself cannot occur without mutations.
While everyone has mutations, the location on the DNA of these mutations is different from person to person. For example, people who are albino have a mutation in the gene that codes for tyrosinase, an enzyme that is essential for providing skin coloration. The mutation inhibits the tyrosinase’s normal function and results in the lack of coloration. As another example, the majority of people in the world cannot absorb lactose and thus become ill after drinking milk, but people who actually can absorb the lactose in milk are able to absorb it because of a mutation. It just so happens that people with Huntington’s disease (HD) have a mutation that lies on the Huntington gene in the DNA. Since this gene codes for the huntingtin protein, the mutant form of the gene creates an altered form of the huntingtin protein, thus resulting in degeneration of the involved nerve cell and, in turn, the onset of the symptoms of HD. (For more information about HD symptoms, click here.)
The following section seeks to answer some of the many questions about mutation and HD. The goal is to illustrate the role of mutations in HD and, in turn, to increase the understanding of the disease in general.
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With their sword-wielding, karate-chopping, and pizza-eating ways, the Teenage Mutant Ninja Turtles swept American children by storm in the early 1990s. Unfortunately, though they did get kids to sit still for 30 minutes each day, the turtles also contributed to a widely held public misconception about what it means to have a mutation. From watching their television program, one might think that people with mutations will grow green skin and begin a new life in the city’s sewer pipes. In reality, though, there is nothing out of the ordinary about mutations. In fact, every person in the entire world has some sort of mutation in his or her DNA; in that sense, everyone is a mutant! Mutations are not just normal, they are important: evolution itself cannot occur without mutations.
