From Our 2013 Archives
Research Gets to Root of Redheads' Higher Melanoma Risk
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Researchers at Harvard Medical School say the genetic mutation responsible for red hair and light skin also appears to promote a well-known cancer-causing pathway.
A person's hair color and skin tone are influenced by a gene receptor called melanocortin-1 (MC1R), and a mutation in MC1R accounts for the 1 percent to 2 percent of people who are born redheads.
In experiments with mice and cell cultures, researchers found that the same MC1R mutation -- called MC1R-RHC -- triggers a specific biochemical signaling pathway when a redhead is exposed to ultraviolet radiation from the sun and other sources.
This pathway, called P13K/Akt, has been tied to breast, ovarian and lung tumors, according to the study, which was published online Aug. 22 in the journal Molecular Cell.
"[The findings] provide a possible molecular mechanism as to why red-haired individuals harboring [these] mutations are much more susceptible to UV-induced skin damage than individuals with darker skin, resulting in a 10- to 100-fold higher frequency of melanoma," study co-senior author Wenyi Wei, an investigator at Beth Israel Deaconess Medical Center and an associate professor of pathology at Harvard, said in a medical center news release.
The researchers also said their findings are a starting point for future studies. For example, people who carry the MC1R mutation might be identified as being at higher skin cancer risk, or drugs that target the P13K/Akt pathway might help treat certain melanomas.
Melanoma is among the rarest of skin cancers, but it also is the most deadly, accounting for 75 percent of skin cancer deaths, the researchers said.
Researchers note that research conducted in animals often does not have the same results in humans.
-- Robert Preidt
SOURCE: Beth Israel Deaconess Medical Center, news release, Aug. 22, 2013