Red hair is among the rarest of hair colors, with only 1% of the population having that natural hair.

I personally think red hair makes heads turn. Check out these natural red-heads: Julianne Moore, Lindsay Lohan, Sarah Ferguson, Marcia Cross and of course, Prince Harry (and great grannie Queen Elizabeth I).

Auburn, ginger, bright orange, carrot-top:  they are all the same red hair, and most would be sharing the same gene.

Some variants of the melanocortin 1 receptor (MC1R) gene are strongly associated with red hair. The gene codes for a receptor that is expressed on pigment cells in the skin (melanocytes). This receptor responds to a hormone that stimutats the production of the dark pigment eumelanin. So, if you have a variant of the MC1R gene that turns off the receptor, the pigment eumelanin will not be made and you will have red hair and fair skin.

What do you get if you have red hair? Aside from stunning looks -

1. fair skin
2. poor ability to tan (major risk for skin cancer !! )
3. more freckles
4. probably Celtic (Irish/ Scottish) ancestors
5. (updated) sensitivity to pain

So now, a company called MyRedHairGene.com (Alpha Biolaboratory, Inc) has a genetic test that will show you if you carry that red hair gene, or if you will pass that gene on to your kids. One test for the red hair gene costs $119; two samples cost $214.

Read Dr. Lei’s interview to find out the science behind the test - Eye on DNA Interview: Dr. Tzung-Fu Hsieh of RedTracer DNA Test for the Red Hair Gene, MC1R

Image:Newscom

Inspired by Diabetes Notes’ "Putting a Face on Diabetes", I wanted to do the same and show how people with genetic disorders - rare or common - manage their condition and live their lives to the full.

I found a feature article about a teenager named Lizzie Tinney, living with Xeroderma Pigmentosa or XP. Lizzie is only 13 years old and yet she already had to undergo surgeries to remove skin cancer sores. Even while wearing protective clothing from head to tow, Lizzie still has to carry around a meter to measure how much UV light she receives.

"It’s way hard. Its way still hard because I love the sun," says Lizzie. "But now that I know that I have XP, I can just go out with my hood on and I go out and play."

Xeroderma Pigmentosa is a rare genetic disorder in which the skin is unable to repair the damage caused by ultraviolet radiation, such as such exposure. The skin becomes so sensitive to UV rays that it gets thin and pigmented. The DNA damage accumulates with age and is so irreversible that risk for skin cancer is 2000-fold.

To find out more about Xeroderma Pigmentosa, visit the Xeroderma Pigmentosum Society website.

For the first time, US researchers have decoded all the genes of a woman who died of myeloid leukemia, and they found 10 mutations that contributed to the development of her cancer.

This finding is significant on several fronts. It’s the first time that a cancer genome has been sequenced. The scientists took samples of both cancer and normal skin cells from the same woman, and sequenced the DNA on both samples. Previous to this, the focus was on select regions of the genome, called candidate regions, suspected of carrying genes that cause or contribute to cancer.

The study also found that 8 of the 10 mutations have never been suspected as contributing to the disease. The researchers found them on every cancer cell and none in the normal samples, which suggests that these mutations play as-yet unknown roles in skin cancer.

The research is focused on skin cancer, but scientists are enthusiastic about finding similar or the same genes in other types of cancers.

At her request, the woman’s identity is kept secret, but this is also the first time that a woman’s genome has been sequenced. Previous to her, only James Watson and Craig Venter’s DNA have been decoded. 

Different types of skin cancer

(Photo credit: http://melanoma.blogsome.com/category/skin-image-processing)

University of Minnesota researchers looking to answer the question ‘why does ultraviolet light induce skin cancer?’ believe they have found how sun-induced skin cancer starts.  They found the cancer starts in receptor molecules or molecular “hooks” on the outer surface of cells that also pull cannabinoid compounds found in marijuana out of the bloodstream.

These receptor molecules are protein structures that are components of a cell’s outer membrane. They act like receiving docks and catch specific compounds from the blood and enable the cells to engulf or  interact with the compounds.

The researchers found that two receptors for cannabinoids also responded to UV light. They made the discovery during a search for the initial interaction between UV light and human skin cells.

If cannabinoid receptors are important in the initiation of skin cancer by UV light, then animals that lack the receptors should be relatively protected from the ravages of the light

Working with mouse embryos, the researchers removed the genes for the cannabinoid receptors. They found that the skin of the resulting adult mice, which lacked the receptors, was resistant to the development of UV-induced inflammation and skin tumors called papillomas.

The next question is why evolution should have produced receptors that respond to both UV light and cannabinoids?

For the full article, click on:

http://www1.umn.edu/urelate/newsservice/NS_details.php?release=080515_3550&page=NS

Elaine Warburton  www.geneticsandhealth.com

(Merkel Skin Cancer - courtesy of DermIS, www.dermis.net)

US researchers have recently discovered a new virus they believe may be linked to a rare but extremely lethal type of skin cancer. Merkel cell carcinoma mostly afflicts the elderly and people with weaker immune systems, including AIDS and transplant patients. The newly discovered virus belongs to the polyoma family, which scientists have studied for more than 50 years because other members of the family have been found to produce cancers in animals. Although polyoma viruses have been suspected of causing human cancers, conclusive proof has been lacking.

Merkel cancer cases have tripled over the past 20 years to about 1,500 a year, and about half the patients with advanced stages of the cancer live only nine months. Two-thirds die within five years.

The University of Pittsburgh Cancer Institute (UPCI) researchers and authors of the paper, Drs Huichen Feng, Masahiro Shuda, and husband and wife, Drs Patrick Moore and Yuan Chang, describe their 10 year programme to perfect the sequencing technology for hunting the virus, which they have named the Merkel cell polyomavirus (MCV). Their work has not established a causal link between MCV and Merkel cell carcinoma (MCC), but if their results can be confirmed, then they are likely to lead to new treatment and prevention approaches.

The scientists identified the virus’s DNA sequence in 80 percent of Merkel cell tumors. The virus penetrates tumor cells in a pattern indicating that the infection precedes (comes before) the cells’ growth into a cancer, they said.  The researchers believe the new virus produces a carcinogenic protein and blocks a gene that stops the growth of cancer cells.

The polyoma virus is the seventh virus linked to human cancers, Dr. Moore and Dr. Fauci said. The others, in addition to the Kaposi’s sarcoma virus, are hepatitis B and C viruses, linked to liver cancer; papilloma virus, to cervical cancer; Epstein-Barr virus, to cancer of the nose and pharynx and to Burkitt’s lymphoma; and HTLV-1, or human T-cell leukemia virus 1.

The findings raise new scientific challenges. One is to determine any links between the virus and other diseases. Among this team’s next steps is an effort to determine whether a virus is related to Hodgkin’s and non-Hodgkin’s lymphoma, Dr. Moore said.

Dr. Moore and Dr. Chang discovered human herpes virus 8, which causes Kaposi’s sarcoma, the most common malignancy in AIDS patients.

Elaine Warburton