The Real-Life X-Men
April 13, 2016
Hugh Jackman as Wolverine in the film X-Men. Researchers have discovered a handful of people in the world who must have mutations, like Wolverine, that help them to survive deadly diseases. Credit: Twentieth Century Fox
Could people with rare powers resulting from genetic mutations be living among us? In a genetic study of almost 600,000 people that was published April 11 in the journal Nature Biotechnology, scientists identified at least 13 individuals worldwide whom they believe must possess mutations that are protecting them from certain deadly inherited diseases. Researchers at Sage Bionetworks, a nonprofit biomedical research organization in Seattle, Washington, conducted the study. They discovered a handful of people who carried mutations for hereditary diseases that should either have made them very ill or killed them. However, these individuals showed no signs of the normally fatal diseases.
The researchers analyzed DNA from 589,306 patients from all over the world. Many of the DNA samples came from companies that sell people an analysis of their personal genome. (A genome is the entire set of chemical instructions that control heredity in a species, such as a human being.) Customers provide a DNA sample—for example, a swab that contains cells from the inside of the cheek—and these companies then analyze the DNA provided.
The researchers focused on 874 genes that can have mutations known to cause hereditary diseases. They compared this genome data with the health record of each patient. They discovered 13 individuals whose genes should cause hereditary diseases that are often fatal. These diseases included cystic fibrosis (abbreviated CF), an incurable condition in which abnormally thick mucus affects the lungs and other organs. CF often causes premature death. Other individuals in the study should have suffered more rare hereditary conditions, including Smith-Lemli-Opitz syndrome, a severe and deadly developmental disorder; familial dysautonomia, a neurological disease that usually kills in early childhood; and epidermolysis bullosa, a condition which causes the skin to break out in painful blisters at the slightest touch. Yet, the health records of the 13 individuals clearly showed they had no sign of such diseases.
The researchers suspect that these 13 patients possess other mutations that counter the effects of the usually deadly disease-causing mutations. The protective mutations are reminiscent of the character Wolverine in the hugely popular X-Men series of action films and comic books. Wolverine and other X-Men are superheroes who have gained their powers from genetic mutations. The super power of the character Wolverine, for example, is the ability to immediately heal from any wound, injury, or illness.
Understanding the mutations that protect these 13 individuals from hereditary diseases would be extremely useful in helping researchers better treat or even prevent these deadly conditions. Unfortunately, the Sage Bionetworks cannot identify the 13 mutants. The consent forms signed by all participants in this wide-ranging genetic study included rules that forbade the researchers from identifying or contacting them.
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