The UJI identifies the main genes involved in solar sensitivity and the risk of skin cancer
The UJI identifies the main genes involved in solar sensitivity and the risk of skin cancer
The UJI identifies the main genes involved in solar sensitivity and the risk of skin cancer
A research developed in the Faculty of Health Sciences of the Universitat Jaume I of Castelló (UJI) (Spain) has identified the genes responsible for solar sensitivity and vulnerability to skin cancer. The research group Genetics of Skin Cancer and Human Pigmentation (Melanogen) has analyzed the skin's response to the sun and the ability to tan, and has detected different genetic variants of northern European populations. The conclusions of this work have been published in the journal Photodermatology, Photoimmunology & Photomedicine.
The work directed by the researchers Conrado Martínez-Cadenas and Bárbara Hernando has studied, through genetic techniques, the genes related to the cutaneous response to sun exposure in Spain, with the aim of knowing in depth the genetic determinants that can favor a poor response from the skin to ultraviolet radiation. The UJI study analyzed eight genetic variants related to pigmentation and solar sensitivity in saliva samples of 456 Spanish volunteers, 184 of whom were highly vulnerable to sunburn, an indication of skin cell damage.
Skin pigmentation and the response of the skin to solar radiation are extremely important to determine the susceptibility to skin cancer and "most studies have been carried out in groups from northern Europe," says Martínez-Cadenas. In fact, the study carried out by the group Melanogén of the UJI «deepens in the characteristics of the population of Mediterranean origin, people characterized by a darker skin in an area with a more intense radiation», explains Conrado. Due to the greater intensity of ultraviolet radiation in the Mediterranean area, mainly during the summer months, evolution «has influenced so that, for example, the proportion of people who have the F374 allele in the SLC45A2 gene, responsible for the skin darker, it is more frequent in Spain than in the more northern European populations. It should be noted that more than 96% of Africans, who withstand an excess of solar radiation, carry this genetic variant in their genome, which gives them protection from the negative effects of ultraviolet rays and skin cancer, "adds Barbara Hernando .
(Photo: UJI)
The Melanogen researchers point out that the four genes that have a significant role in skin sensitivity to the sun in the Spanish population are these four: MC1R, IRF4, HERC2 and SLC45A2. Conrado Martínez-Cadenas explains: «We know that there is a genetic predisposition to suffer sunburn. The cutaneous response to the sun and the ability to tan is mainly related to a type of genetic variants in the MC1R gene, the R variants. These make the gene not work well and synthesize pheomelanin, instead of eumelanin, which makes people have lighter skin, blond or red hair and freckles ». However, this study indicates that "the synergistic combination of several variants that determine solar sensitivity results in an extra risk or a larger phenotype," says the genetics professor. Thus, «having protective variants in our genome can attenuate the negative effect of the R variants of the MC1R gene», concludes Bárbara Hernando. The professors of the UJI remind that prevention and early detection, as well as a special surveillance of the population with more susceptibility to developing skin cancer, are key in the cure of skin cancer.
Among the future lines of research of the Melanogen group is the study of the existence of an added risk to develop skin cancer according to the pigmentary genotype and the phenotypic characteristics of people. In this way, progress could be made in the application of genetic diagnosis as a tool to detect a person's risk of developing a disease, guide treatment decisions and assess the risk of developing a progression or recurrence of the disease. In addition, it would help specialists to choose a personalized and precise treatment according to the individual risk of each patient.
The research group Melanogén of the Universitat Jaume I, led by Conrado Martínez-Cadenas, develops three fundamental lines. The first is the genetic basis of human susceptibility to melanoma and other skin cancers; the second is focused on the molecular mechanisms and intracellular signaling pathways involved in the genesis and progression of cutaneous cancers, both melanoma and non-melanoma (basal cell and squamous cell carcinomas). And, ultimately, his studies address genetic, hormonal and environmental factors involved in the development of benign pigmentary lesions: freckles, nevi, solar lentigines, melasmas, etc. (Source: UJI)
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