By comparing DNA of healthy and cancerous tissue of a single person, there were discovered eight new mutations linked to the disease. The study in Nature The complete genome of a person suffering from cancer was decoded for the first time. The comparison between the DNA of normal and cancerous tissue of a woman suffering from acute myeloid leukemia (AML) has identified ten mutations in the genome of cancer cells, including eight so far unknown, which would be linked to the disease. Researchers of the Washington University School of Medicine (USA), coordinated by Richard K. Wilson, presented their findings in Nature. Scientists have taken a sample of tissue from normal skin and a tumor tissue from bone marrow to a patient suffering from AML - cancer that affects the bone marrow cells that produce red blood cells. Subsequently they have decoded the DNA of the two tissues, comparing all three billion bases of which the genomes were composed, to go back to differences in disease characteristics of the individual. There were ten mutations identified, two already known, eight first ever linked to the disease. Of those, three were found in genes that normally can block the growth of tumors (for example in Ptprt, the tyrosine phosphatase gene, often altered in colon cancer). Four changes instead involved genes regulate the molecular pathways that promote tumor development - particularly in a family of genes, usually expressed in embryonic stem cells, which could stimulate cell renewal. A final disturbing deterioration instead of transporting drugs into the cell. According to scientists, these mutations have occurred one after another, each adding something new to the tumor.

The habitual consumption of alcohol reduces the size of brain mass. This suggests a study in Neurology magazine. The more we drink, the more our brains will decrease. To suggest this is a report of Wellesley College, Massachusetts, published in the journal Archives of Neurology (a publication of Jama) and this week the American Academy of Neurology. We know that the volume of the brain decreases with age (about 1.9 percent every ten years). This physiological reduction is accompanied by an increase in white matter lesions and both factors - reminiscent of the authors - are related to cognitive problems like memory. While some scholars have suggested a possible positive effect of alcohol on reducing the normal volume of brain mass, this new study suggests just the opposite. Data was collected on a sample of over 1,800 individuals aged between 55 and 64 years, most consumers of alcohol or ex-drinkers, which carried out magnetic resonance (participants in the Framingham Offspring fall Study, a study of the cardiovascular problems started in 1971, for which it was collected information on weekly consumption of alcohol, sex, body mass index and other physiological parameters). The results show that there is a significant correlation between alcohol intake and reduction of brain volume, especially in women which usually consume less alcohol than men.

To isolate individual cells of the immune system and study the interaction in order to improve the treatment of cancer. At this will serve the new biosensor prototype developed under the project Cochise (Cell-On-CHIp bioSEnsor), supported by the European Union and coordinated by Roberto Guerrieri, professor of Electronics at the Faculty of Engineering, University of Bologna . The biological approach used to treat cancer patients consisting of interferon, interleukin-2 or other factors stimulating the growth of different cell types and able to reinforce the natural defenses of the body. But these substances are not always well tolerated. An alternative approach is to identify the immune cells able to fight cancer, cultivate them in vitro and then re-introduce them in the body. But here the problem lies in identifying and in isolating the small number of cells that are selectively able to fight cancer. The objective of the project Cochise (which is intended to last three years), is to develop a new class of biosensors capable of isolating cells (not more than 1 in 10 thousand) that are actually effective in fighting cancer cells . As the first objective was developed a prototype, used to demonstrate the possibility of controlling the flow of two individual cells and putting them in a display where you can study the interaction.

The mutation of the gene Alk would be responsible for inherited forms of cancer. Neuroblastoma is a childhood cancer more widespread and aggressive: it attacks the autonomic nervous system during development, forming frequently in tumor masses or into the chest. A study, published in Nature and coordinated by the Children Hospital of Philadelphia (USA), indicates that mutations in the gene anaplastic lymphoma kinase (Alk) would be responsible for inherited forms of the disease. The international group of researchers, including some of the Italian Institute for Cancer Research in Genoa, have collected genetic information of 20 families where the disease was presented in more than one occasion, by analyzing the DNA of 176 people ( of which 49 with neuroblastoma). Eight families, in which at least three individuals suffering from the disease were closely analyzed, possessed the changed Alk gene. The normal role of this gene, which expresses a transmembrane receptor, is not yet understood in depth but, according to previous studies, its alterations increase the risk of developing lymphoma or lung cancer.

A new technique, developed in the laboratories of the Foundation San Raffaele Biomedical Park, facilitates the process of regeneration of muscle tissue. Stem cells, modified at the level of genes, could permit the recovery of tissue degenerated from Duchenne muscular dystrophy (Dmd), even when the disease is in an advanced stage. This is a further step towards developing a therapy, which is being developed for some years by researchers of the Foundation San Raffaele Biomedical Park of Castel Romano, coordinated by Giulio Cossu, University of Milan. The research, published in Nature Medicine, was conducted by Cesare Gargioli and Marcello Coletta, along with Fabrizio de Grandis and Stefano Cannata at the Roman Tor Vergata. From previous studies and experiments on animal models it is known that mesangioblasti, stem cells normally associated with blood vessels, are able to spread easily and merge with and into the muscle tissue regenerating it (cell therapy). In advanced stages, however, this treatment had so far proven ineffective because of difficulties to penetrate between the muscle fibers. The degeneration, in fact, is accompanied by a process of inflammation followed by scarring tissue that impedes the provision of blood (and thus oxygen) to the muscles. Therefore, the muscle fibers are replaced with fatty tissue. To overcome the obstacle, the researchers genetically modified cells derived from the tendons (fibroblasts) so as to make them express the protein metalloproteasi 9 (Mmp9), a molecule that can degrade collagen that accumulates between fibres degeneration.

A study explains how a yeast cell becomes cancerous: the fault is a chromosomal translocation An altering of the genome that causes cancer was finally detected and reproduced in the laboratory. The discovery, crucial for understanding the genesis and development of malignancies, is due to the geneticist Charles V. Bruschi, head of the Laboratory of Molecular Genetics of yeast, International Centre for Genetic Engineering and Biotechnology in Trieste (Icgeb) and coordinator of the Society of Italian scientific yeast (Zymi). Together with his group, Bruschi has uncovered, that the so-called chromosomal translocation is at fault. The yeast cells, whose DNA was sequenced completely in 1996, are a good model because they possess many similarities with mammalian cells and are easily manipulated by genetic engineering. Thanks to technical Bit (Bridge-Induced Translocation), designed by Bruschi and Valentina Tosato in 2005, it was possible to artificially induce the translocation and demonstrate the crucial role of this phenomenon in the formation of cancer. "Although it has long been a correlation between the presence of chromosomal translocations and the appearance of cancer cells," explains Bruschi, "so far it was not clear whether a translocation was the origin of cancer or whether, instead, it was a consequence. This is because we see patients when the cancer has already formed and in the cells already exists a particular translocation. In practice, these observations are made when it is too late to establish a relationship of cause and effect. "

The ventral striatum, a part of the brain already known to be associated with rewards and unexpected stimuli, is the center of our desire for adventure. The research in Neuron. A group of researchers from the Wellcome Trust Centre for Neuroimaging at the University College of London has identified the area of the brain directly linked to our desire for adventure. Or, more precisely, our propensity to live new experiences and to experience what we do not know. For the study, published in Neuron, researchers have developed a test: the participants were presented a series of images associated with different sums of money put into a premium, and were asked to guess which of the sums was higher. Although the volunteers easily could identify the image associated with richer rewards, when it was introduced a new figure, all of them tended to choose the latter rather than those already known with secure profits. Through magnetic resonance imaging, neuroscientists have noticed that the area of the ventral Striatum (an area of the brain already known to be associated to receive a reward and unexpected stimuli) was particularly active when participants opted for the novelty.

An Italian research published on Plos One identified, in rabbits, some areas where neurons grow as from adult tissue A new Italian study has identified in the cerebellum of rabbits some areas in which nerve cells grow from adult tissue, demonstrating that repairing damaged to the brain - in theory - is not impossible. The discovery, fifteen years ago, that even the central nervous system of adult mammals can form new neurons has been a cornerstone of neuroscience and distorting the previous belief that neurogenesis occurs in this animal class, once and for all, during development embryonic, without the possibility of repair after birth. Unlike other vertebrates, in which this process occurs post-natal widely in the brain, in mammals seems limited to a few specific areas.

For the first time a molecule of genetic material was observed in real time, that is able to correct damage in its structure The repair of a damaged DNA molecules is a mechanism well known in genetics, but so far no one had given testimony in real time. Researchers of the Kavli Institute at the University of Delft, the Netherlands, were able to document at the level of a single molecule of DNA, the homologous recombination, one of the mechanisms of repair frequently put in place by the cells. The work was published in the journal Molecular Cell. The rupture of the molecule of DNA can be caused, for example, from ultraviolet rays or X-ray, but it can also happen during normal cell division. The type of damage can affect a part of the structure internal molecules, but the cells are equipped with various mechanisms to repair it. If these damages were not immediately corrected, they could lead to changes in functional levels!

An experimental study opens a way for gene therapy as a possible treatment for cases that do not respond to medicines in cases of Epilepsy. Research on Brain. Almost one third of people suffering from epilepsy don't respond to prescription drugs. To date, the only possibility for many of them is to undergo an operation to remove the area affected by the disease in the brain, but an alternative to surgery could rise by gene therapy. An experimental study of the Department of Neuroscience of Mario Negri in Milan, led by Noah, has shown that it is possible to induce the sick cells to produce a protein with anticonvulsant properties. And what this substance does is significantly reduces the recurrence of seizures. The research, conducted in collaboration with international groups led by Gunther Sperk University of Innsbruck (Austria), Asla Pitkanen University of Kuopio (Finland), and Matthew During dell'Ohio State University (USA), was just published on Brain magazine.

Three hours of jogging or 13 of walking per week: according to a U.S. study moderate exercise reduces the risk of breast cancer Being fit, as we know, is not only an aesthetic issue. And now it seems that it is also useful for the prevention of breast cancer. A study of about 65,000 women by researchers at Washington University School of Medicine in St.. Louis and from Harvard University in Boston, just published in Journal of the National Cancer Institute, points out that women practicing sports have a 23 per cent lower risk of developing cancer before the menopause. In particular, it may be important to regularly exercise between the ages of 12 and 22 years. "We have prevention strategies for breast cancer pre-menopausal, but our research shows that physical activity during adolescence and youth, between 12 and 35 years, may be important in the long term reduction of the risk of cancer", said Graham Colditz, professor of Prevention and Control and co-director at the Siteman Cancer Center, Washington University School of Medicine and Barnes-Jewish Hospital. "This is just one more reason to encourage young women to exercise regularly."

At the Ifom-Ieo Campus, a study began on the operation of a molecule which opens new avenues of research for less toxic treatments in chemotherapie. The study in Cell magazine. Developing new chemotherapies able to kill cancer cells without harming healthy ones: This is the goal that's still far away but we can see the light. Thanks to an international study to which has substantially contributed a team of Campus Ifom-Ieo (Foundation Institute of Molecular Oncology - European Institute of Oncology) in Milan, in fact, it was possible to identify a molecule - called Ndc80 - which could be the ideal target of new chemotherapeutic drugs, because it's active only when the cell reproduces (mitosis). The research, led by Andrea Musacchio in collaboration with Peter De Wulf, was published in the journal Cell. One of the problems with current chemotherapies is that, in addition to attacking the cancer cells, in part it also kills healthy cells. This is because the drugs (for example, taxolo) affect proteins that, although mostly engaged in the process of cell proliferation (typical of tumor masses), they are also involved in other processes with other cells that are not sick. A molecule found only in reproducing cells would be the ideal target.

The entire genome of a person can now be sequenced in only four months and with less than one million dollars. To make "guinea pig" was James Watson The moment in which we can know the gene for gene our identity is always near you: a new method developed by Jonathan Rothberg, the research firm American 454 Life Sciences, has enabled sequenziare the genome of a person in a very short time and with a significantly reduced cost compared to what is required by previous systems. The genome sequenced in the new way is to James D. Watson, the famous discoverer, with Francis Crick, the molecular structure of DNA in 1953: This is the second human code entirely decifrato after that of Craig Venter, the scientist-entrepreneur who first, last September, made public l ' entire sequence of its genome. The new system, however, is a major step forward compared to the pioneering conquest of Venter, both in terms of timing and costs: to map the genome of Watson it took only four months and less than one million dollars (the system Venter had applied for some years and about one hundred million).

In the blood of alligators and crocodiles proteins were discovered with high antibacterial and antifungal activity. Unlike men, alligators can combat fungi, viruses and bacteria without the body being previously subjected to these micro-organisms. The researchers have demonstrated the McNeese State University and Louisiana State University who collected the blood from alligators and analyzed the white blood cells, which are the cells appointed to immune defense.

Three studies have demonstrated for the first time a genetic cause for this type of cancer. Perhaps also responsible for nicotine dependence A gene variation on a region of chromosome 15 is related to the risk of developing lung cancer. At this same result came three independent studies, two published in Nature and one in Nature Genetics, and is the first time that there is a genetic cause for lung cancer, in addition to environmental factors among them, of course, smoking. Between cancer and smoking is perhaps the most obvious cause-effect relationship in epidemiology. And here lies the point: a region of chromosome contains objected to three genes which in turn contain the instructions to produce a very particular protein: the nicotinic receptor for acetylcholine. As the name implies, this receptor has a strong affinity for nicotine and a change in its structure could cause cancer in itself and, affect dependence on smoking (according to the second one of the three studies)

A study conducted by an Italian and published on Pnas shows that healthy cells, if required to "diet", have an increased resistance to stress caused by the drugs compared with those ill. Fasting can be a weapon against the heavy effects of chemotherapy. Just as the fight against cancer concentrates its efforts on the so-called magic bullets, drugs capable of selectively target diseased cells from laboratories of the University of Southern California shows a new paradigm: protect healthy cells and then go furiously only against those sick . A team led by biologist Italian Valter Longo, which involved the United States laboratories and the hospital Gaslini of Genoa, has discovered a kind of magic screen that healthy cells (as a result of caloric restriction) have as a defense against chemotherapy. The results of the study appeared on Pnas Early Edition (here a link to the video.)

Cloned cells were transplanted into the brain of mice who suffered from this disease and they replaced sick neurons. The success of therapeutic cloning in mice. Researchers of the Sloan-Kettering Institute in New York, led by neuro-scientist Lorenz Studer, have treated the guinea pigs suffering from Parkinson with the transplantation of embryonic stem cells obtained from the skin of rodents themselves sick. The experiment, described in Nature Medicine, not only has recorded cases of rejection, but also significant improvements in the evolution of clinical pathology. The group Studer - after having caused lesions in the brains of mice that would determine the same effects of Parkinson's disease - has transferred the nuclei of cells inside the tail skin cell mouse egg "emptied" of its nucleus, through the technique known as therapeutic cloning (or Scnt, Somatic Cell Nuclear Transfer). The cloned cells, cultivated, were then developed into blastocysts. The researchers thus generated 187 lines of embryonic stem cells from 24 different mice, most of which later differentiate into neurons capable of producing dopamine.

Robo4, present in the cells of the blood vessel wall, may improve or prevent the consequences of eye diseases The age-related ocular degeneration is the leading cause of blindness in people over 65 years old, and retinopathy lead to total loss of sight in most of the patients of diabetes, about 21 million in the world. In particular, the degeneration and the destabilization of the vessel wall causes many times a loss of liquid and, consequently, severe inflammation that can lead to blindness. A new protein, named Robo4, identified in cells in the wall of blood vessels, may prevent these anomalies and help reduce or even prevent various vascular diseases related to an increase. The study, conducted by Dean Li and colleagues at the University of Utah, in the United States, was published in Nature.

Satb1 controls the expression of genes that control the growth of tumour mass and the formation of metastases. The discovery in Nature magazine. It is a protein the cause of the aggressiveness of breast cancer. It's called Satb1 and was already known to scientists involved because expression of T cells of the immune system. Only now it has revealed its darkest side, showing that they play a key role in the malignant form of breast cancer. Metastases, which are formed when cells are adding themselves to the tumour to invade tissues nearby and colonize other parts of the body, represent the advanced stage of the disease. Researchers have now discovered that the cells of the breast cancer need their protein Satb1 to become metastatic. The study has just been published in Nature.

Muliple mutations of a single gene lead to the accumulation of a protein in motor neurons that causes death. Mutations in a single gene could be the basis of amyotrophic lateral sclerosis (Sla), the neurodegenerative disease that leads to progressive paralysis and that affects every year in Italy 1,500 people, mainly men of average or advanced age. The discovery, the result of years of studies conducted by international team in which the names of Emanuele Buratti Baralle Francisco and the International Centre for Genetic Engineering and Biotechnology (Icgeb) in Trieste, and guided by Christopher Shaw of King College London, appeared in Science.