Apr/090
Baldness goodbye! From the genetic key to defeating
A group of German researchers’s Institute of Human Genetics at the University of Bonn, led by Regina Betz, discovered the gene that can influence the growth of hair. The news was published in the online version of Nature Genetics. The discovery was made through analysis of patients with two types of genetic disorders that affect hair growth. The first is the hereditary hypotrichosis simplex a genetic disease that causes hair loss from early childhood (hair loss, without regret, occurs most often around the sixth month of life); the latter is a rare disease that involves the growth of hair thinning, frizzy and dry.
For both diseases has been identified a mutation in the gene P2RY5.
The gene is found on cells of hair follicles and works like a real switch for hair growth, showing idle in case of baldness. But the real good news for all people with this annoying problem, too type-common “, is that German research was complemented by a study of the United States by Jerry Shapiro, professor of dermatology at the University of British Columbia, and Mrs. Vera Price, of the real authority in the field, which led to the identification of a molecule that can activate the gene P2RY5 and encouraging, so the hair growth.
J. Shapiro and V. Price, has long engaged in research and evaluation of active ingredients effective in stimulating hair growth have found, in experiments conducted on laboratory animals, that the acid lisofosfatidico (LPA) can encourage the proliferation of epithelial cells in hair follicles of mice. The two discoveries then open the way for new therapies in the treatment of baldness that may be given a genetic approach and the use of molecules that will solve, it’s really time to say, the problem at its source!
Feb/090
Fatal familial insomnia. An Italian would be the first man died for “insomnia”
It narrated in the book of the researcher TDMax the story of the first patient with Fatal Familiar Insomnia (FFI, insomnia Fatal familial) a rare genetic disease that prevents those who are carriers of sleeping up to take him to death. In the book “The Family That Could not Sleep” the author tells the story of an Italian doctor who died in 1765 which would be the first carrier of the genetic mutation that generates the disease (the so-called patient zero) and reconstructs the path through the generations of this man until the 80s.
It was thanks to a descendant of this first patient, who died just in the ’80s, it was possible to investigate more thoroughly the cause’s fatal familial insomnia. In fact this man has bravely chosen to donate his body to science because they had conducted the necessary investigations. Post-mortem analysis of brain structures has been possible to show that the pathological process of FFI is the rupture caused by a genetic mutation, the protein in the brain, which, accumulating, end up destroying the neurons. As stated Michael Geschwind, University of San Francisco, the damage is localized mainly at the level of the thalamus, a brain structure involved in regulating the sleep-wake rhythm.
The disease, described for the first time in Italy and R. Medori E. Lugaresi Institute of Neurology, University of Bologna, which would be affected forty families around the world, is hereditary and has a sudden onset and late unfortunately almost always around forty years when often they have already had children, who have a 50% chance of developing it. It characterized by a persistent insomnia, nightmares and even hallucinations, which are accompanied by autonomic disturbances and engines. This is actually a true dementia, caused by a pathological process similar to the so-called mad cow disease (BSE) that leads to death within a little over a year.