Shulou(Shulou.com)11/24 Report--

(photo Source: Instagram) do you feel very distressed and depressed when you wake up every morning in the face of the knotted hair that you or your child can't open with a comb and want to be cut off?

There is a rare genetic disease in the world that makes some people's hair knotted and completely uncombable, and the famous physicist Albert Einstein is one of them.

Einstein: do you think I don't want to comb my hair? PDP anyone who has seen a picture of Einstein knows that every picture shows him with messy hair and unkempt "hair". Many people think that this is the argument that Einstein is too busy with scientific research to dress up. In fact, Einstein's shaggy hair is associated with a rare disease called difficult-to-comb hair syndrome (Uncombable hair syndrome,UHS).

The hair structure of people with this rare disease is abnormal to varying degrees, usually in children between the ages of 3 months and 12 years old. The patient's hair will gradually turn to silver, gold or straw, and stand on the scalp, growing in all directions, unable to comb or flatten it with a comb.

The symptoms will be relieved with age. [2] A children's story published in Germany in 1845 was based on patients with difficult-to-comb hair syndrome, creating a character called "Struwwel Peter" or "Shockheaded Peter". French researchers first documented and described the difficult-to-comb syndrome in the literature for the first time in 1973, but the disease was extremely rare until only 60 cases were reported in the late 1990s.

In 2016, Michel Simon, director of the INSERM of the French National Institutes of Health, and his colleagues at the French National Centre for Scientific Research formally identified the genetic cause and published the findings on The American Journal of Human Genetics.

The researchers sequenced the DNA of 107children with difficult-to-comb hair syndrome from across Europe, compared the DNA sequence with the DNA sequence of people with normal hair condition, and found that there were mutations in three genes in children with difficult-to-comb hair syndrome.

Comparison of normal and diseased hair structure | the hair of Wikipedia people is divided into two parts: the hair stem and the hair root, the hair stem is the part outside the skin, that is, the visible part of the hair; the hair root is the intradermal part of the hair, and the lower part can go deep into the subcutaneous tissue. There are peptidyl arginine deiminase Ⅲ, epidermal transglutaminase recombinant protein and hair hyaline protein in human hair (encoded by PADI3, TGM3 and TCHH genes, respectively), and the gene mutation happens here. The researchers found that a mutation in one of the three genes was enough to make a child's hair difficult to comb.

Hair hyaline protein is a structural protein encoded by TCHH gene. As a bridge between keratin intermediate filaments, it is very important for hair dryness to form a cylindrical transverse fibrous structure. In this study, TCHH gene mutation caused more than 71% of the total cases.

The precursor protein of the protein has no activity and needs to be modified to become a mature protein. PADI3 and TGM3 are two enzymes responsible for post-translational modification of TCHH, which are associated with nearly 4% of the cases, and about 25% of the cases in the study are still unexplained.

Left 1 and 2 show the cross section of hair dryness in UHS patients. [2] scientists looked at the hair of children with difficult-to-comb hair syndrome under a microscope and found that the average hair section is round, showing a smooth cylinder. The cross section of the hair of patients with this kind of rare disease is triangular, heart-shaped or kidney-shaped, showing a textured longitudinal groove, and several different cross-sections can appear on a single hair. this also makes the hair different from ordinary people's hair when refracting light, resulting in a sparkling effect.

Oblique lines convey direction and movement better than horizontal or vertical lines. [2] the team continued to grow normal and mutant cells in mice and found that mice with the PADI3 gene showed irregular, twisted whiskers and wavy fur at birth, which improved 4 weeks after birth. On the other hand, the mutation of TCHH gene will lead to the synthesis of very short proteins, while the function of KIF gene is almost completely lost.

SEM analysis of the fur of normal (left) and mice with the PADI3 gene (right) shows that most of the hairs of mice with the mutant gene are rough and irregular (white arrows). [2] in addition to famous scientists, in 2017, the Mirror reported a piece of news about difficult-to-comb hair syndrome.

A little girl named Lila Grace Barlow is suffering from difficult-to-comb hair syndrome. Lila has been diagnosed with a rare disease since she was one year old, and her parents spend a lot of time taking care of her messy hair every day. Leila herself often feels inferior because of her hair, so her parents tried various biological products (such as biotin) to try to make Lila's hair tame.

The bad news is that any shampoo or conditioner can hardly smooth a patient's hair because of its genetic nature; the good news is that as Lila grows up, most people with difficult-to-comb hair syndrome can get rid of this completely unruly, random hair curse in their teens.

If 50% of a child's hair has the characteristics of inverted triangular and grooved hair stem growth, it can be diagnosed with difficult-to-comb hair syndrome. As a result, difficult-to-comb hair syndrome may be more common than we think, but many people do not choose to see a doctor, or the doctor does not realize that it is difficult to comb hair syndrome.

(figure source network) although, this looks like a lot of traffic!

Reference:

[1] https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome

[2] Journal: F.B. Ü. Basmanav et al. Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. The American Journal of Human Genetics. December 1, 2016, Vol. 99, p. 1292. Doi: 10.1016/j.ajhg.2016.10.004.

[3] Journal: F.B. Basmanav et al. Assessment of the genetic spectrum of uncombable hair syndrome in a cohort of 107 individuals. JAMA Dermatology. Published online August 31, 2022. Doi: 10.1001/jamadermatol.2022.2319.

[4] Ramot Y, Zlotogorski A, Molho-Pessach V. Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease. Skin Appendage Disord. 2019 Apr;5 (3): 162164. Doi: 10.1159/000493649. Epub 2018 Oct 11.

This article is from the official Wechat account: bring Science Home (ID:steamforkids), author: everything.

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