27 August 2013

The two - faced MC1R gene

Scientists have explained why red-haired people develop melanoma more often

ABC MagazineAs is known, the human skin pigment that affects skin and hair color depends on the melanocortin-1 receptor gene (MC1R).

A mutation in this gene determines whether a person has red hair and fair skin. American scientists have found out that the same mutation of the MC1R gene activates a pathological molecular pathway that increases the risk of developing melanoma. The results of this study are published in the journal Molecular Cell (Cao et al., MC1R Is a Potential Regulator of PTEN after UV Exposure in Melanocytes).

It is a little comforting that a recent study showed that (possibly under the influence of regulatory mechanisms associated with the MC1R gene or other pigmentation–causing genes) red-haired men are less likely to get prostate cancer - VM.

Melanoma is the rarest, but the most lethal type of skin cancer. Melanoma accounts for 75 percent of all skin cancer deaths. In the case of its development, uncontrolled division of cells producing pigment – melanocytes begins. The multi–stage pathological process underlying the progression of this tumor has received a special name - melanomagenesis. It is believed that it is caused by a number of genetic mutations, as a result of which cell proliferation, differentiation and death are accelerated, as well as human sensitivity to ultraviolet light is increased. As a result of exposure to solar radiation, the DNA of skin cells mutates, and the development of melanoma begins.

It is known that people with red hair are 10-100 times more likely to suffer from melanoma than owners of hair of any other color, but the exact reason for this relationship has long remained unknown.

Researchers from the Beth Israel Deaconess Medical Center and the Boston University School of Medicine conducted a series of experiments on human skin cell cultures and mice. Experiments have shown that usually the MC1R gene, which determines the color of hair and skin, is associated with the well-studied PTEN gene, which suppresses the development of tumors. If this link is broken, the MC1R gene activates the P13K/Akt molecular pathway, leading to the development of cancer. Thus, PTEN protects the body from the development of cancer.

The researchers were convinced that the MC1R-RHC mutation, which is responsible for the appearance of red hair and fair skin in humans, leads to the fact that the MC1R gene cannot connect with the PTEN gene. The protective function of the latter is sharply reduced, as a result of which the process of proliferation of melanocytes is started. Moreover, against the background of reduced activity of the PTEN gene, the activity of the BRAF gene increases, which is found in 70 percent of melanoma patients. All this only accelerates the development of cancer. Scientists hope that the results of their research will help develop new drugs-inhibitors of the PI3K/Akt molecular pathway, which will be used to treat patients with melanoma.

Portal "Eternal youth" http://vechnayamolodost.ru27.08.2013

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