Julia Pastrana was the woman who became famous with the nickname "bearded lady" in pertangahan in the 1800s. Now, launch LiveScience preaching, Sunday (24 / 5) mentioned, more than 150 years scientists finally managed to uncover the genetic mutation causes the rare condition experienced by Julia.
Diseases known as hypertrichosis terminalis scientific name (CGHT) this causes a dense growth of hair all over his body, the appearance of strange faces an enlarged teeth and gums.
In some cases, people who have gum disease CGHT has a normal tooth. Previously, the disease is difficult to study due to the scarcity of people who suffer from diseases like this. After analyzing a number of genes in three families of Chinese descent who suffered CGHT and one more patient CGHT gingival hyperplasia, researchers uncover the genetic disorder on chromosome 17.
In three Chinese families, the members of his family had to remove chromosomal DNA. That is, they lose an important part of their essential genes. On the other hand, individuals who experience enlargement of the gums teeth have an extra piece of DNA called DNA duplication, the type of mutation that doubled their DNA structure. This genetic abnormality that affects four to eight genes in koromosom 17.
"While it has long been believed that most people who suffer from CGH has a genetic defect, which underlines the specific genetic mutation CGHT with or without gingival hyperplasia has not been found until now," said Xue Zhang, lead author of the study of the Chinese Academy of Medical Sciences and Peking Union Medical College in Beijing.
A number of studies in the future will try to find the mechanism of why this mutation can cause the patient's physical appearance, added Zhang. The research results were presented on May 21 in the American Journal of Human Genetics.
