Who is at risk?
Glowing protein will help identify the risk of melanoma
Maxim Malimonov
Scientists of the Krasnoyarsk Scientific Center of the Siberian Branch of the Russian Academy of Sciences have learned to identify genetic mutations using luminous proteins. The method allows you to diagnose quickly and accurately, does not require expensive equipment or special skills of personnel. To test the method, scientists together with colleagues from several organizations in Krasnoyarsk, Novosibirsk and Moscow searched for mutations in the genes responsible for the synthesis of melanin pigments that increase the risk of melanoma. The results of the study are published in the journal Talanta (Bashmakova et al., Bioluminescent SNP genotyping technique: Development and application for detection of melanocortin 1 receptor gene polymorphisms).
If you have red hair and fair skin, it is better not to abuse prolonged exposure to the sun – the risk of melanoma is high. This is one of the most aggressive types of cancer with unpredictable and often rapid development. Every year, more than 200,000 cases of melanoma are diagnosed in the world. A little more than fifty years ago, scientists discovered that the risk of getting melanoma is inherited. It means that people have a genetic predisposition to this form of cancer.
Melanoma is more common in people with fair skin, red hair and a lot of freckles. Hair color, pigmentation and skin coloring depend on the work of genes regulating the synthesis of melanin pigments. Scientists have discovered several dozen variants of one of these genes – the melanocortin 1 receptor. With certain changes in its structure, this gene is not able to trigger the synthesis of the dark pigment eumelanin, while the formation of the red pigment pheomelanin continues. For carriers of such mutations, the risk of melanoma is increased.
A team of scientists from Krasnoyarsk, Moscow and Novosibirsk assessed the risk of melanoma by the presence of a number of mutations in the melanocortin receptor gene. With the help of glowing proteins, they recorded differences in the gene of healthy and melanoma patients. Patients diagnosed with melanoma were more likely than healthy people to have two of the five mutations studied. The study showed that the developed method of searching for variations in genes is suitable for conducting such studies, providing fast and reliable genotyping.
"The task of finding mutations associated with certain diseases is extremely relevant. The technology developed by us for estimating the frequency of mutations using bioluminescent tags can be used for any gene and any mutation. The main thing is that it can be done quickly, simply and for a large number of samples," explained one of the authors of the study, Candidate of Biological Sciences, engineer at the Institute of Biophysics SB RAS Evgenia Bashmakova.
To develop the method, scientists used a previously created system of two-channel bioluminescent diagnostics. It is based on the luminous protein obelin, isolated from the hydroid polyp Obelia longissima collected in the White Sea. With the help of E. coli, which was "implanted" with the gene necessary for the synthesis of obelin, scientists learned how to obtain this protein in the laboratory. Then the scientists created variants of the obelin with modified glow parameters. Based on two proteins emitting violet and green light, a system was created to determine single mutations.
Blood samples of almost two hundred melanoma patients and the same group of healthy people were used in the work. When assessing the risk of melanoma, five of the most dangerous mutations associated with the risk of this disease were investigated. For two mutations, a relationship was shown with the risk of occurrence and development of melanoma, and for one of them, a connection with a more aggressive course of the disease.
The developed technique makes it possible to assess the risk of melanoma in just two hours by a fairly small clinical laboratory. A similar analysis can be done to determine the predisposition to any other disease if it is associated with genetic mutations. Often, the detection of mutations helps doctors correctly predict the course of the disease and choose individual therapy, providing the most effective treatment. In the case of melanoma, information about the individual risk can be used, for example, for prevention purposes. "People who are carriers of mutations should be more attentive and careful about tanning and know that they and, possibly, their children have such an individual risk," Evgenia Bashmakova noted.
The work was carried out with the support of the Russian Science Foundation. The project is part of a long-term study of bioluminescent systems and their use in the diagnosis of various diseases, which is carried out in the laboratory of Photobiology of the Institute of Biophysics SB RAS.
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