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Hair Loss Genetics News

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Huffington Post on Hair Loss Genetics

Dr. Bernstein contributed to an article on hair loss genetics published in Huffington Post. In the article, “Sorry, You Can’t Just Blame Your Mother’s Father for Your Thinning Hair” Dr. Bernstein addresses the common myth that hair loss is inherited exclusively from the mother’s side of the family – and, more specifically, from your mother’s father. While your mother’s (or maternal grandfather’s) genes can be the culprit, the characteristics of your hair are influenced by many different genes that may come from either or both sides of your family.

The confusion stems from the fact that men inherit their X chromosome from their mother and a key gene involved in hair loss is found on the X chromosome.

Dr. Bernstein explains:

The androgen receptor gene is an X-linked gene, so there’s a slightly greater incidence of it following the mother’s side of the family than the father’s side, but genetic hair loss is polygenetic and the expressivity is very variable, so both sides can contribute to someone’s hair loss.

Dr. Christopher Cunniff, a clinical geneticist at Weill Cornell Medicine and New York-Presbyterian Hospital, added a comment that the genes most clearly identified as having influence on hair texture or color have not been found to be located on the X chromosome.

The article discusses hair loss genetics and a range of factors affecting the characteristics of one’s hair.

Image c/o: Ruigsantos via Getty Images

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Miniaturized human hair follicle shows concentration of Prostaglandin D2 (in green). Credit: Garza and Cotsarelis/Penn Medicine)
Miniaturized human hair follicle shows concentration of Prostaglandin D2 (in green). Credit: Garza and Cotsarelis/Penn Medicine)

Researchers at the University of Pennsylvania, who were investigating the biological causes of androgenetic alopecia or common genetic hair loss, have discovered that levels of a certain inhibitor protein, called Prostaglandin D2 (PD2), are elevated in bald areas on the scalp. This discovery could be an important breakthrough in developing a medical hair loss treatment that regulates the production of the protein, or one that blocks it from attaching to its receptor protein.

Prostaglandins are a family of proteins that have a wide range of functions, including controlling cell growth and constricting and dilating muscle tissue. According to an article in ScienceDaily, the researchers had previously found evidence that something was inhibiting hair growth, but they did not expect to find prostaglandins involved in the miniaturization of hair follicles:

In men with androgenetic alopecia, Prostaglandin D2 was found to be three times higher in bald scalp tissue versus areas of the scalp with hair. Additionally, when hair follicles in a laboratory culture were treated with PD2, the hairs were significantly shorter than non-treated ones. A derivative of PD2, called 15-dPGJ2, was found to completely inhibit hair growth.

The receptor protein that is active with both prostaglandins, called GPR44, may hold the key to limiting the effects of PD2 and, therefore, in regulating hair loss in both men and women. While the study looked only at men, the GPR44 receptor protein exists in women as well. So, theoretically, a topical hair loss treatment may be developed that would prevent or limit thinning or hair loss in both sexes.

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Dr. Christiano Interviewed on Alopecia, Hair Loss by New York TimesDr. Angela Christiano, a colleague of Dr. Bernstein’s at Columbia University, has been studying the causes of alopecia areata and genetic hair loss for many years. She, in fact, suffers from the disease as well.

The New York Times has published a question and answer interview with Dr. Christiano which covers her own struggle with alopecia, her research into the causes of genetic hair loss, and where she sees the field going in the future. Here is one exchange that offers a window into how her research is breaking new ground in the field of hair loss genetics:

Q. When were you able to actually do the study?

A. In 2008. We published our findings this past July. Ours was the first study of alopecia to use a genome-wide approach. By checking the DNA of 1,000 alopecia patients against a control group of 1,000 without it, we identified 139 markers for the disease across the genome.

We also found a big surprise. For years, people thought that alopecia was probably the stepchild of autoimmune skin diseases like psoriasis and vitiligo. The astonishing news is that it shares virtually no genes with those. It’s actually linked to rheumatoid arthritis, diabetes 1 and celiac disease.

Continued discovery by Dr. Christiano and others in the field of hair loss genetics will lead to clues like these, which will shape the future of hair loss treatment. The hope for hair loss sufferers around the world is that a medical treatment can be developed which will effectively cure androgenetic alopecia, or common baldness. There is a lot of ground to be covered and there are many studies yet to be conducted, but progress is being made.

You can read more about Dr. Christiano’s research on our Hair Loss Genetics News page.

Read the article and listen to a two minute audio stream of the interview at the NYT.

Photo c/o Ruth Fremson/The New York Times

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Dr. Angela Christiano of Columbia University in New York and a team of scientific researchers have identified a new gene involved in hair growth. Their discovery may affect the direction of future research for hair loss and the diagnosis and ultimate prevention of male pattern baldness.

The condition which leads to thinning hair is called hereditary hypotrichosis simplex. Through the study of families in Pakistan and Italy who suffer from this condition, the team was able to identify a mutation of the APCDD1 gene located in chromosome 18. This chromosome has been linked to other causes of hair loss.

According to Dr. Christiano, “The identification of this gene underlying hereditary hypotrichosis simplex has afforded us an opportunity to gain insight into the process of hair follicle miniaturization, which is most commonly observed in male pattern hair loss or androgenetic alopecia.”

The mutation of the APCDD1 gene inhibits the Wnt signaling pathway. Although this recently discovered gene does not explain the complex process of male pattern baldness, the importance of this discovery lies in the Wnt signaling that the gene directs, has now been shown to control hair growth in humans, as well as in mice.

Reference: Nature 464, 1043-1047 (15 April 2010) | doi:10.1038/nature08875;

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Japanese scientists have located a gene that seems to regulate hair loss in mice. They feel that this gene may also play a role in hair loss in humans. The results of the studies were recently reported in the Proceedings of the National Academy of Sciences.

The researchers produced a strain of mice lacking in the Sox21 gene. As a result, the mice began to lose hair starting eleven days after birth. By the forth week, the mice were entirely devoid of hair. What was most interesting was that during the fourth week hair started to re-grow, but then eventually fell out starting the cycle again. These cycles were noted to repeat for as long as two years.

The scientific team is headed by Yumiko Saga of the Division of Mammalian Development at the National Institute of Genetics in Mishima, Japan.

The same Sox21 gene causing this cyclical hair loss in mice was also found in human hair shafts, so it is hypothesized that his gene might possibly be related to baldness in humans.

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It has long been thought that the genes for common baldness come from the mother side of the family – explaining why a male whose maternal grandfather is bald is more likely to lose his hair than if his own father were bald. This observation was recently supported by the discovery of the androgen receptor (AR) gene which resides on the X-chromosome.

Remember, there are two sex chromosomes; X and Y. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). This means that a male must get his X chromosome from the mother.

But we all have seen that some bald sons have bald fathers, even when no one on the mother’s side of the family has any hair loss. This suggests that the genetics of male pattern alopecia is more complicated, with multiple genes influencing hair growth. And it is likely that the inheritance of baldness is polygenetic, with relevant genes coming from both the x-chromosome of the mother and non-sex chromosomes of either parent. So where are the other genes?

Two independent research groups, one from England and the other Germany, both published in the journal Nature Genetics, have identified a gene locus p11 on chromosome 20 that seems to be correlated with male pattern hair loss, and since the gene is on a non-sex chromosome, it offers an explanation for why the inheritance of common baldness can be from either side of the family. It is important to emphasize that like the AR gene, the chromosome 20p11 locus has only been shown to correlate with hair loss. It is not been shown that either of these genes actually cause baldness.

Unlike many genes whose expression is one or the other (i.e. blue eyes or brown), the 20p11 variations tend to be additive; therefore, men with one affected copy will have a 3.7 fold increase in the chance of having early hair loss and those with two copies a 6.1 fold increase. Men with both the chromosome 20p11 variation and the AR gene will have a seven-fold increase of developing male pattern hair loss at an early age. This gene combination occurs in about 15% of Caucasian men.

The mainstay of predicting future hair loss is with a Densitometer – an instrument used by physicians to measure changes in hair shaft diameter (miniaturization). According to Dr. Robert Bernstein, “Looking at hair shafts under a microscope can spot shrinkage years before it is apparent – we can pick it up when kid are still teenagers.” Early diagnosis is important in androgenetic alopeica because medication is useful only if the hair loss is not too advanced. The genetic studies are significant in that they supply the physician with one more piece of information when developing a master plan for treating a person’s hair loss. See the article in the Wall Street Journal titled, Hair Apparent? New Science on the Genetics of Balding.

While researchers consider these latest discoveries to be of significant merit, caution must be made since these genes are felt to be associated with hair loss, but not yet shown to be causative. More importantly, the associations are not absolute. A clinical evaluation is still the most reliable indicator of future hair loss. Finally, the ability to identify associated genes does not suggest that a “cure” for male pattern baldness is imminent.

Reference
“On the Genetics of Balding,” Wall Street Journal, Vol. 4 – October 1, 2008.

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