Julia Pastrana was known to the woman who started the nickname "bearded lady" in pertangahan in 1800's. Now, spread the news LiveScience, Sunday (24 / 5) mentioned, more than 150 years, the scientists finally managed to reveal the genetic mutation causes a rare condition that caused Julia.
Julia Pastrana (1834-1860) Photo In Books In 1900 WIKIPEDIA
Disease known as hypertrichosis terminalis scientific name (CGHT) this causes a dense growth of hair all over his body, strange facial features 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 Chinese families who suffer CGHT and one more person CGHT gingival hyperplasia patients, the researchers uncover a genetic disorder on chromosome 17.
In these three Chinese families, having family members remove chromosomal DNA. That is, they lose an important part of their essential genes. In other cases, individuals who have an enlarged tooth in the gums have extra pieces of DNA called DNA duplication, the type of mutation that doubled their DNA composition. 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, specific genetic mutations that underlie CGHT with or without gingival hyperplasia has not been found until now," said Xue Zhang, lead author of the study of Chinese Academy of Medical Sciences and Peking Union Medical College in Beijing.
A number of studies in the future will try to find a mechanism for why this mutation can cause interference with the physical appearance of the patient, added Zhang. The results of this research presented on May 21 in the American Journal of Human Genetics.
Source: http://unik77.blogspot.com
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