January 7, 2009, 11:54 PM CT

Genetic Determinants of ADHD

A special issue of American Journal of Medical Genetics (AJMG): Part B: Neuropsychiatric Genetics presents a comprehensive overview of the latest progress in genetic research of Attention Deficit/Hyperactivity Disorder (ADHD). The issue covers major trends in the field of complex psychiatric genetics, underscoring how genetic studies of ADHD have evolved, and what approaches are needed to uncover its genetic origins.

ADHD is a complex condition with environmental and genetic causes. Typically it is characterized by developmentally inappropriate levels of inattention, hyperactivity and impulsivity that has an onset in childhood. It is one of the most common psychiatric diseases, affecting between 8-12 percent of children worldwide. The drugs used to treat ADHD are highly effective, making ADHD one of the most treatable psychiatric disorders. However, despite the high efficacy of ADHD medications, these therapys are not curative and leave patients with residual disability. Because ADHD is also has one of the most heritable of psychiatric disorders, scientists have been searching for genes that underlie the disorder in the hopes that gene discovery will lead to better therapys for the disorder.

Among the a number of studies in the issue are two from the first genomewide association study of individual ADHD patients. The study examined more than 600,000 genetic markers in over 900 families from the largest genetic study of ADHD, the International ADHD Multicenter Genetics (IMAGE) project led by Stephen V. Faraone of SUNY Upstate Medical Center. The authors have made these data publicly available to scientists who are interested in pursuing further studies......... Posted by: JoAnn      Read more         Source

January 7, 2009, 11:35 PM CT

'Controlling the blood vessels to combat obesity

Mice exposed to low temperatures develop more blood vessels in their adipose tissue and metabolise body fat more quickly, as per a newly released study from Karolinska Institutet. Researchers now hope to learn how to control blood vessel development in humans in order to combat obesity and diabetes.

The growth of fat cells and their metabolism depend on oxygen and blood-borne nutrients. A possible way to regulate the amount of body fat in order, for instance, to combat obesity can therefore be to affect the development of blood vessels in the adipose tissue.

A team of scientists at Karolinska Institutet have now demonstrated the rapid development of blood vessels in the adipose tissue of mice exposed to low temperatures. This is followed in its turn by a transformation of the adipose tissue from 'white' fat to 'brown' fat, which has higher metabolic activity and which breaks down more quickly.

"This is the first time it's been shown that blood vessel growth affects the metabolic activity of adipose tissue rather than vice versa," says Professor Yihai Cao, who led the study. "If we can learn how to regulate the development of blood vessels in humans, we'd open up new therapeutic avenues for obesity and metabolic diseases like diabetes".

Brown fat releases heat when it breaks down, and is mainly found in hibernating animals. In humans, it is found in newborn babies, but researchers believe by controlling blood vessel development that it might be possible to transform white fat to brown fat in adults as well......... Posted by: JoAnn      Read more         Source

January 6, 2009, 9:04 PM CT

Seeing brain aging before symptoms appear

UCLA researchers have used innovative brain-scan technology developed at UCLA, along with patient-specific information on Alzheimer's disease risk, to help diagnose brain aging, often before symptoms appear. Reported in the recent issue of Archives of General Psychiatry, their study may offer a more accurate method for tracking brain aging.

Scientists used positron emission tomography (PET), which allows "a window into the brain" of living people and specifically reveals plaques and tangles, the hallmarks of neurodegeneration. The PET scans were complemented by information on patients' age and congnitive status and a genetic profile.

"Combining key patient information with a brain scan may give us better predictive power in targeting those who appears to benefit from early interventions, as well as help test how well therapys are working," said study author Dr. Gary Small, who holds UCLA's Parlow-Solomon Chair on Aging and is a professor at the Semel Institute for Neuroscience and Human Behavior at UCLA.

Researchers took PET brain scans of 76 non-demented volunteers after they had been intravenously injected with a new chemical marker called FDDNP, which binds to plaque and tangle deposits in the brain. Scientists were then able to pinpoint where these abnormal protein deposits were accumulating......... Posted by: Daniel      Read more         Source

January 6, 2009, 7:08 PM CT

How do they do it?

Stem cells are the body's primal cells, retaining the youthful ability to develop into more specialized types of cells over a number of cycles of cell division. How do they do it? Researchers at the Carnegie Institution have identified a gene, named scrawny, that may be a key factor in keeping a variety of stem cells in their undifferentiated state. Understanding how stem cells maintain their potency has implications both for our knowledge of basic biology and also for medical applications. The results would be reported in the January 9, 2009 print edition of Science

"Our tissues and indeed our very lives depend on the continuous functioning of stem cells," says Allan C. Spradling, director of the Carnegie Institution's Department of Embryology. "Yet we know little about the genes and molecular pathways that keep stem cells from turning into regular tissue cellsa process known as differentiation."

In the study, Spradling, with colleagues Michael Buszczak and Shelley Paterno, determined that the fruit fly gene scrawny (so named because of the appearance of mutant adult flies) modifies a specific chromosomal protein, histone H2B, used by cells to package DNA into chromosomes. By controlling the proteins that wrap the genes, scrawny can silence genes that would otherwise cause a generalized cell to differentiate into a specific type of cell, such as a skin or intestinal cell......... Posted by: Scott      Read more         Source

January 2, 2009, 10:55 AM CT

Getting better results from anxiety treatment

A network of emotion-regulating brain regions implicated in the pathological worry that can grip patients with anxiety disorders may also be useful for predicting the benefits of therapy.

A newly released study appearing online Jan. 2 reports that high levels of brain activity in an emotional center called the amygdala reflect patients' hypersensitivity to anticipation of adverse events. At the same time, high activity in a regulatory region known as the anterior cingulate cortex is linked to a positive clinical response to a common antidepressant medication. The study will appear in an upcoming issue of the American Journal of Psychiatry

For individuals with anxiety disorders, the anticipation of a bad outcome can be worse than the outcome itself, says Jack Nitschke, assistant professor and clinical psychology expert at the University of Wisconsin-Madison School of Medicine and Public Health and main author of the newly released study. Some individuals spend so much time worrying about getting into a negative situation or having a panic attack, he says, that the condition becomes debilitating. "In an extreme situation, they might not even leave their home," he says.

To study how the brain responds to anticipation, scientists at the UW-Madison Waisman Laboratory for Brain Imaging and Behavior used functional magnetic resonance imaging (fMRI) to examine patients with generalized anxiety disorder (GAD) as they viewed a set of negative and neutral images. Patients were shown pre-image cues several seconds before each picture so they would know what to expect: a circle before a neutral image and a minus sign before an aversive image......... Posted by: JoAnn      Read more         Source

January 2, 2009, 10:26 AM CT

Chronic pancreatitis pain: Relief with antioxidants

Antioxidant supplementation was found to be effective in relieving pain and reducing levels of oxidative stress in patients with chronic pancreatitis (CP), reports a newly released study in Gastroenterology CP is a progressive inflammatory disease of the pancreas in which patients experience abdominal pain (in early stage) and diabetes and maldigestion (in late stage). Pain is the major problem in 90 percent of patients with CP and currently, there is no effective medical treatment for pain relief. Gastroenterology is the official journal of the American Gastroenterological Association (AGA) Institute.

In this placebo-controlled, double blind trial, 127 patients, ages 30.5+/-10.5, were assigned to placebo or antioxidant groups. After six months, the reduction in the number of painful days/month was significantly higher in the antioxidant group, compared with the placebo group (7.46.8 versus 3.24, respectively). The reduction in the number of analgesic tablets/month was also higher in the antioxidant group (10.511.8 versus 4.45.8, respectively). Furthermore, 32 percent and 13 percent of patients became pain free in the antioxidant and placebo groups, respectively; the beneficial effect of antioxidants on pain relief was noted early at three months.

"Abdominal pain, the predominant symptom in patients with CP, is difficult to treat. The main reason for a largely ineffective medical therapy is that the mechanism of pain in CP is not well understood," said Pramod Kumar Garg, MD, DM, of the All India Institute of Medical Sciences, New Delhi and main author of the study. "We are encouraged by our findings, as significant improvement was noted with antioxidants in respect to all the parameters of pain in this study. In addition, reduction in pain resulted in fewer man-days lost, thus providing functional employment gain to the patients. The findings should spur further research in this exciting area"......... Posted by: Sue      Read more         Source

December 31, 2008, 7:18 AM CT

Components of grape-seed may control leukemia

An extract from grape seeds forces laboratory leukemia cells to commit cell suicide, as per scientists from the University of Kentucky. They observed that within 24 hours, 76 percent of leukemia cells had died after being exposed to the extract.

The investigators, who report their findings in the January 1, 2009, issue of Clinical Cancer Research, a journal of the American Association for Cancer Research, also teased apart the cell signaling pathway linked to use of grape seed extract that led to cell death, or apoptosis. They observed that the extract activates JNK, a protein that regulates the apoptotic pathway.

While grape seed extract has shown activity in many laboratory cancer cell lines, including skin, breast, colon, lung, stomach and prostate cancers, no one had tested the extract in hematological cancers nor had the precise mechanism for activity been revealed.

"These results could have implications for the incorporation of agents such as grape seed extract into prevention or therapy of hematological malignancies and possibly other cancers," said the study's main author, Xianglin Shi, Ph.D., professor in the Graduate Center for Toxicology at the University of Kentucky.

"What everyone seeks is an agent that has an effect on cancer cells but leaves normal cells alone, and this shows that grape seed extract fits into this category," he said......... Posted by: Janet      Read more         Source

December 30, 2008, 7:13 AM CT

Anti-fungal drug against asthma

Some patients with severe asthma who also have allergic sensitivity to certain fungi enjoy great improvements in their quality of life and on other measures after taking an antifungal drug, as per new research from The University of Manchester in England.

The findings were published in the first issue for January of the American Thoracic Society's American Journal of Respiratory and Critical Care Medicine

"We knew that a number of people with severe asthma are sensitized to several airborne fungi which can worsen asthma without overt clinical signs. The question was: does antifungal treatment provide any clinical benefit," said David Denning, F.R.C.P., F.R.C.Path., professor of medicine and medical mycology at The University of Manchester and lead investigator of the study.

In 2006, the most recent year for which official statistics are available, there were more than 16 million adults with self-reported asthma in the U.S.; about 20 percent of them have severe asthma.

A small number of severe asthmaticsabout one percent are known to have a syndrome called allergic bronchopulmonary aspergillosis, an extreme allergy to Aspergillus fumigatus fungus that is linked to the long-term colonization of their respiratory tracts with the fungus. But a number of more 20 to 50 percent are sensitized to a variety of fungi without showing overt clinical signs or demonstrable colonization. It is these patients with severe asthma with fungal sensitization, or "SAFS", as the scientists named the syndrome, who are most likely to enjoy marked improvement with the antifungal treatment......... Posted by: JoAnn      Read more         Source

December 28, 2008, 11:15 PM CT

What triggers Alzheimer's disease?

A slow, chronic starvation of the brain as we age may be a main triggers of a biochemical process that causes some forms of Alzheimer's disease.

A newly released study from Northwestern University's Feinberg School of Medicine has found when the brain doesn't get enough sugar glucose -- as might occur when cardiovascular disease restricts blood flow in arteries to the brain -- a process is launched that ultimately produces the sticky clumps of protein that appear to be a cause of Alzheimer's.

Robert Vassar, main author, discovered a key brain protein is altered when the brain has a deficient supply of energy. The altered protein, called elF2alpha, increases the production of an enzyme that, in turn, flips a switch to produce the sticky protein clumps. Vassar worked with human and mice brains in his research.

The study is reported in the December 26 issue of the journal Neuron

"This finding is significant because it suggests that improving blood flow to the brain might be an effective therapeutic approach to prevent or treat Alzheimer's," said Vassar, a professor of cell and molecular biology at the Feinberg School.

A simple preventive strategy people can follow to improve blood flow to the brain is getting exercise, reducing cholesterol and managing hypertension......... Posted by: Daniel      Read more         Source

December 28, 2008, 11:12 PM CT

Take care of that childhood anxiety disorder

Anxiety disorders in children and adolescents should be recognized and treated to prevent educational underachievement and adult substance abuse, anxiety disorders and depression, says a nationally recognized child psychiatry expert from UT Southwestern Medical Center.

In an editorial appearing in the Dec. 25 issue of New England Journal (NEJM), Dr. Graham Emslie, professor of psychiatry and pediatrics at UT Southwestern, urges awareness that children need to be treated for anxiety disorders and recommends that related empirical evidence be integrated into therapy guidelines.

"Anxiety disorders may cause children to avoid social situations and age-appropriate developmental milestones," said Dr. Emslie. "Further, the avoidance cycle can lead to less opportunity to develop social skills necessary for success during the later part of life. Treatment would help children learn healthy coping skills".

Up to 20 percent of children and adolescents are affected by persistent and excessive worry that can manifest as generalized anxiety disorder, separation anxiety disorder and social phobia. Research has shown that failure to identify these disorders early leads to educational underachievement and increased rates of anxiety disorders, depression and substance abuse during the later part of life......... Posted by: Scott      Read more         Source

December 28, 2008, 11:05 PM CT

Insights into the X chromosome matchmaking

A research group lead by researchers at the University of Warwick has discovered the trigger that pulls together X chromosomes in female cells at a crucial stage of embryo development. Their discovery could also provide new insights into how other similar chromosomes spontaneously recognize each other and are bound together at key parts of analogous cell processes. This is an important mechanism as the binding togetgher of too a number of of too few of a particular chromosome can cause many medical conditions such as Down's Syndrome or Turner's Syndrome.

In our cells most genes are expressed from both types of each chromosome linked gene, but the most notable exception to this rule are X-linked genes in female mammals. During embryo development, in a step necessary to survival, one of the X chromosomes is silenced in each female cell to ensure that the levels of X-derived products are equalized in XX females and XY males, via a process known as X-Chromosome Inactivation (XCI). Recent discoveries have revealed that for that stage in the process to happen the X chromosomes have to quickly pair off (or colocalize) in a way that allows each part of those pairs of X chromosomes to be very close together and be aligned in a particular way. Failure to achieve this close physical colocalization of the two X chromosomes will lead to XCI failure and cell death......... Posted by: Scott      Read more         Source

December 28, 2008, 11:02 PM CT

Cancer drug bortezomib find new uses

Scientists have discovered a new treatment for transplant patients, targeting the antibody-producing plasma cells that can cause organ rejection.

Results of the study are reported in the Dec. 27, 2008, edition of the journal Transplantation

Steve Woodle, MD, and his colleagues observed that a cancer drug bortezomib used to treat multiple myeloma, or cancer of the plasma cells, is effective in treating rejection episodes caused by antibodies that target transplanted kidneys and reversing rejection episodes that did not respond to standard therapies.

B-lymphocytes, or B cells, play a large role in the humoral immune response by making immune proteins that attack transplanted organs.

"We found a body of literature demonstrating that bortezomib works well in suppressing transplant rejection in the laboratory," says Woodle, main author of the study and chief of transplant surgery at UC. "Moreover, it worked well in models of autoimmune diseases".

T-lymphocytes, or T cells, are white blood cells that were usually thought to cause the rejection of transplanted organs.

Woodle and his team began searching for agents that targeted plasma cells in 2005.

"It has become clear that plasma cells and the antibodies they produce play a bigger role in rejection than previously thought, and the development of therapies targeting these cells has lagged," he says. "We realized that current therapies don't target the plasma cells which may produce the antibody, in general"......... Posted by: Janet      Read more         Source

December 22, 2008, 9:46 PM CT

Genes may influence popularity

A groundbreaking study of popularity by a Michigan State University scientist has observed that genes elicit not only specific behaviors but also the social consequences of those behaviors.

As per the investigation by behavioral geneticist S. Alexandra Burt, male college students who had a gene linked to rule-breaking behavior were rated most popular by a group of previously unacquainted peers.

It's not unusual for adolescent rule-breakers to be well-liked - prior research has made that link - but Burt is the first to provide meaningful evidence for the role of a specific gene in this process. The study will appear in an upcoming issue of the Journal of Personality and Social Psychology, which is published by the American Psychological Association.

"The idea is that your genes predispose you to certain behaviors and those behaviors elicit different kinds of social reactions from others," said Burt, assistant professor of psychology. "And so what's happening is, your genes are to some extent driving your social experiences".

The concept - which scientists call "evocative gene-environment correlation" - had been discussed in scientific literature but only in theory. This study is the first to really flesh out the process, establishing clear connections between a specific gene, particular behaviors and actual social situations, she said......... Posted by: Janet      Read more         Source

December 22, 2008, 9:22 PM CT

Artificial human bone marrow in a test tube

Artificial bone marrow that can continuously make red and white blood cells has been created in a University of Michigan lab.

This development could lead to simpler pharmaceutical drug testing, closer study of immune system defects and a continuous supply of blood for transfusions.

The substance grows on a 3-D scaffold that mimics the tissues supporting bone marrow in the body, said Nicholas Kotov, a professor in the U-M departments of Chemical Engineering; Materials Science and Engineering; and Biomedical Engineering.

The marrow is not made to be implanted in the body, like most 3-D biomedical scaffolds. It is designed to function in a test tube.

Kotov, principal investigator, is an author of a paper about the research currently published online in the journal Biomaterials Joan Nichols, professor from the University of Texas Medical Branch, collaborated on a number of aspects of the project.

"This is the first successful artificial bone marrow," Kotov said. "It has two of the essential functions of bone marrow. It can replicate blood stem cells and produce B cells. The latter are the key immune cells producing antibodies that are important to fighting a number of diseases".

Blood stem cells give rise to blood as well as several other types of cells. B cells, a type of white blood cell, battle colds, bacterial infections, and other foreign or abnormal cells including some cancers......... Posted by: Scott      Read more         Source

December 22, 2008, 5:33 AM CT

Role of cardiovascular proteins in Alzheimer's

Scientists have observed that two proteins which work in tandem in the brain's blood vessels present a double whammy in Alzheimer's disease. Not only do the proteins lessen blood flow in the brain, but they also reduce the rate at which the brain is able to remove amyloid beta, the protein that builds up in toxic quantities in the brains of patients with the disease.

The work, described in a paper published online Dec. 21 in the journal Nature Cell Biology, provides hard evidence directly linking two processes believed to be at play in Alzheimer's disease: reduction in blood flow and the buildup of toxic amyloid beta. The research makes the interaction between the two proteins a seductive target for scientists seeking to address both issues.

Researchers were surprised at the finding, which puts two proteins known for their role in the cardiovascular system front and center in the development of Alzheimer's disease.

"This is quite unexpected," said Berislav Zlokovic, M.D., Ph.D., a neuroscientist and a senior author of the study. "Conversely, both of these processes are mediated by the smooth muscle cells along blood vessel walls, and we know that those are seriously compromised in patients with Alzheimer's disease, so perhaps we shouldn't be completely surprised"......... Posted by: Daniel      Read more         Source

December 22, 2008, 5:27 AM CT

Predicting metastasis from colon cancer

Cancer Scientists at the Max Delbrck Center for Molecular Medicine (MDC) Berlin-Buch and the Charit Universitts Medizin Berlin (Gera number of) have identified a gene which enables them to predict for the first time with high probability if colon cancer is going to metastasize. Assistant Professor Dr. Ulrike Stein, Professor Peter M. Schlag, and Professor Walter Birchmeier were able to demonstrate that the gene MACC1 (Metastasis-Associated in Colon Cancer 1) not only promotes tumor growth but also the development of metastasis.When MACC1 gene activity is low, the life expectancy of colon cancer patients is longer compared to patients with high MACC1 levels. (Nature Medicine, doi: 10.1038/nm.1889)*.

As per the National Institutes of Health in Bethesda, Maryland, USA, more than 108,000 people developed colon cancer in the US in 2008. Despite surgery, chemo- and radiotherapy, only 50 percent of patients can be cured because 20 percent of the patients have already developed metastasis by the time their colon cancer is diagnosed. In addition, one-third of patients whose therapy of the original colon cancer was successful will, nevertheless, go on to develop metastasis.

The MDC and Charit scientists are convinced that the identification of the MACC1 gene will aid medical doctors in identifying those patients as early as possible who are at high risk of developing life-threatening metastasis in the liver and the lungs. As a result, more intensive therapy and follow-up care could be offered to high risk patients......... Posted by: Sue      Read more         Source

December 22, 2008, 5:22 AM CT

Genes that may cause lung cancer

Individuals with particular variants of certain genes involved in metabolizing the most potent carcinogen found in cigarette smoke have an increased risk of developing lung cancer. That is the conclusion of a new study reported in the February 1, 2009 issue of CANCER, a peer-evaluated journal of the American Cancer Society. The study's results may help shed light on how lung cancer develops and could have important implications for preventing smoking-related cancers.

Tobacco-specific nitrosamine 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) is a component of cigarette smoke that has been shown to cause lung cancer in rodents. Certain enzymes act to protect the body from this type of chemical by turning it into nontoxic forms or by transporting it from cells. For example, ATP-binding cassette transporters encoded by genes known as ABCB1 and ABCC1 are involved in eliminating carcinogens from the lungs, protecting them against inhaled toxins.

Scientists suspect that individuals with alterations in these genes might have an increased susceptibility to develop lung cancer. Recently, a team of researchers led by Dr. Daru Lu and Dr. Haijian Wang of the Fudan University in Shanghai identified common variants at the beginning and end of the ABC1 and ABCC1 genes. They then analyzed these variants in 500 lung cancer patients and 517 cancer-free controls in a Chinese population......... Posted by: Scott      Read more         Source

December 15, 2008, 9:12 PM CT

Esophagus Stem Cells Grow Into Transplantable Tissue

Scientists at the University of Pennsylvania School of Medicine have discovered stem cells in the esophagus of mice that were able to grow into tissue-like structures and when placed into immune-deficient mice were able to form parts of an esophagus lining. The researchers report their findings online this month in the Journal of Clinical Investigation.

"The immediate implication is that we'll have a better understanding of the role of these stem cells in normal biology, as well as in regenerative and cancer biology," says senior author Anil K. Rustgi, MD, the T. Grier Miller Professor of Medicine and Genetics and Chief of Gastroenterology. "Down the road, we will develop a panel of markers that will define these stem cells and use them in replacement treatment for diseases like gastroesophogeal reflux disease [GERD] and also to understand Barrett's esophagus, a precursor to esophageal adenocarcinoma and how to reverse that before it becomes cancer".

Diseases of the esophagus are very common in the United States and worldwide. "Non-cancerous forms include GERD and millions are affected," notes Rustgi.

GERD can sometimes lead to inflammation of the esophagus, called esophagitis. "In some of these cases esophagitis can lead to a swapping of the normal lining of the esophagus with a lining that looks more like the intestinal lining and that's called Barrett's esophagus," explains Rustgi. "This can lead to cancer of the esophagus, which is the fastest rising cancer in the US, increasing by 7 to 8 percent a year."........ Posted by: Scott      Read more         Source

December 15, 2008, 5:28 AM CT

Obesity is in your head, not your gut

New research suggests that genes that predispose people to obesity act in the brain and that perhaps some people are simply hardwired to overeat.

An international research team co-led by the University of Michigan found six new genes that help explain body mass index and obesity, and all but one of the genes are tied to the brain rather than to metabolic functions, such as fat storage and sugar metabolism.

In addition to the six new genes, the study also confirmed the role of two other genes previously linked to obesity, said co-principal investigator Goncalo Abecasis, an associate professor at the U-M School of Public Health. The study will appear online Dec. 14 in advance of print publication in the journal Nature Genetics

It's significant that five of the six new genes also impact brain function, because the findings suggest people could simply be programmed to overeat, said U-M postdoctoral researcher Cristen Willer, first author on the study. The brain, she said, has two main functions correlation to weight: appetite control and the regulation of one's total energy balance (whether you burn more calories or conserve more energy).

"This research tells you a little about what kinds of drugs you want to develop and where you want them to act," Abecasis said......... Posted by: JoAnn      Read more         Source

December 15, 2008, 5:21 AM CT

Exciting discovery could 'stop cancer from killing people'

Metastasis is the ability of cancer cells to spread from a primary site, to form tumours at distant sites. It is a complex process in which cell motility and invasion play a fundamental role. Essential to our understanding of how metastasis develops is identification of the molecules, and characterisation of the mechanisms that regulate cell motility. Hitherto, these mechanisms have been poorly understood. Now, a team of scientists lead by Professor Marco Falasca at Barts and The London School of Medicine and Dentistry has shown not only that the enzyme phospholipase Cγ1 (PLCγ1) plays a crucial role in metastasis formation, but that down regulation of PLCγ1 expression is able to revert metastasis progression.

The team investigated the role of PLCγ1 in cell invasion and metastasis using different approaches to modulate its expression in highly invasive cancer cell lines. Their results showed that PLCγ1 is mandatory for breast cancer cell invasion and activation of the protein Rac1. They revealed a functional link between PLCγ1 and Rac1 that provides insight into processes regulating cell invasion.

Professor Falasca explained: "Consistent with these data we detected an increase in PLC1 expression in metastases in comparison to primary tumours in patients with breast cancer. Therefore PLCγ1 is critical for metastasis formation, and development and inhibition of this enzyme has a therapeutic potential in the therapy of metastasis dissemination"......... Posted by: Janet      Read more         Source

December 11, 2008, 10:24 PM CT

Capture and kill cancer cells in the bloodstream

In a new tactic in the fight against cancer, Cornell researcher Michael King has developed what he calls a lethal "lint brush" for the blood -- a tiny, implantable device that captures and kills cancer cells in the bloodstream before they spread through the body.

The strategy, which takes advantage of the body's natural mechanism for fighting infection, could lead to new therapys for a variety of cancers, said King, who is an associate professor of biomedical engineering.

In research conducted at the University of Rochester and would be published in an upcoming issue of the journal Biotechnology and Bioengineering, King showed that two naturally occurring proteins can work together to attract and kill as a number of as 30 percent of tumor cells in the bloodstream -- without harming healthy cells.

King's approach uses a tiny tubelike device coated with the proteins that could hypothetically be implanted in a peripheral blood vessel to filter out and destroy free-flowing cancer cells in the bloodstream.

To capture the tumor cells in the blood, King used selectin molecules -- proteins that move to the surface of blood vessels in response to infection or injury. Selectin molecules normally recruit white blood cells (leukocytes) which "roll" along their surfaces and create an inflammatory response -- but they also attract cancer cells, which can mimic the adhesion and rolling process......... Posted by: Janet      Read more         Source

December 11, 2008, 10:18 PM CT

What you give, might not always be received

A fundamental process in the transmission of genes from mother to child has been identified by scientists at the Montreal Neurological Institute, McGill University. The new study reported in the recent issue of the journal Nature Genetics identifies a mechanism that plays a key role in how mutations are transmitted from one generation to the next, providing unprecedented insight into metabolic diseases.

DNA that is only passed on from mothers to their children is stored in mitochondria, a compartment of cells which functions to supply energy to the body. Mutations in mitochondrial DNA (mtDNA) are important causes of over 40 known types of diseases and disorders which primarily affect brain and muscle function, some of which are severely debilitating, with symptoms including stroke, epilepsy, deafness and blindness. One very common mutation in Quebec causes maternally inherited blindness which has now been traced back to a Fille du Roi sent by the king of France in the 1600s to rectify the imbalance of gender in the newly colonized country.

MNI scientists have located a genetic bottleneck that determines the proportion of mutated mtDNA that mothers transmit to their offspring. This is important because there are a number of copies of mitochondria in cells and their distribution in tissues has a role in the severity and symptoms of the disease. Therefore knowing how mtDNA is transmitted is essential for the understanding and therapy of a range of maternally inherited diseases, and provides an opportunity for genetic counselling and therapy......... Posted by: Scott      Read more         Source

December 9, 2008, 10:10 PM CT

Genetic markers identified for alcohol response

Researchers at the UCSF Ernest Gallo Clinic and Research Center have identified a region on the human genome that appears to determine how strongly drinkers feel the effects of alcohol and thus how prone they are to alcohol abuse.

The researchers found that a DNA sequence variation, known as a single nucleotide polymorphism (SNP), on chromosome 15 is significantly associated with the level of response to alcohol and could signal the genetic factors that affect alcohol abuse, according to findings published in the Dec. 8 online edition of the "Proceedings of the National Academy of Sciences".

The research investigated two sentinel SNP markers - RS1051730 and RS8034191 -that previously had been associated with nicotine dependence and lung cancer and found a strong association with the first marker, according to Raymond L. White, PhD, director of the Gallo Center and senior author on the paper.

"We know that the level of response to alcohol is heritable and think there are genetic factors behind 40 to 60 percent of alcohol dependence, but until now, the chromosomal locations of these factors have not been clear for the most common forms of alcohol use disorders," White said. "By understanding which portion of our genetic makeup influences our response to alcohol, we can begin to understand what type of treatments might be most successful in helping reduce alcohol use disorders"......... Posted by: JoAnn      Read more         Source

December 9, 2008, 9:56 PM CT

Causes of death on Mount Everest

An international research team led by Massachusetts General Hospital (MGH) researchers has conducted the first detailed analysis of deaths during expeditions to the summit of Mt. Everest. They observed that most deaths occur during descents from the summit in the so-called "death zone" above 8,000 meters and also identified factors that appear to be linked to a greater risk of death, especially symptoms of high-altitude cerebral edema. The report, which will appear the December 20/27 issue of the British Medical Journal has been released online.

"We know that climbing Everest is dangerous, but exactly how and why people have died had not been studied," says Paul Firth, MB, ChB, of the MGH Department of Anesthesia, who led the study "It had been assumed that avalanches and falling ice especially in the Khumbu Icefall on the Nepal route were the leading causes of death and that high-altitude pulmonary edema would be a common problem at such extreme altitude. But our results do not support either assumption."

Thousands of climbers have attempted to reach the summit of 8,850-meter (29,000-foot) Mount Everest since the 1920s. In order to examine the circumstances surrounding all deaths on Everest expeditions, the research team which included researchers from three British hospitals and the University of Toronto evaluated available expedition records including the Himalayan Database, a compilation of information from all expeditions to 300 major peaks in the world's highest range. Of a total of reported 212 deaths on Everest from 1921 to 2006, 192 occurred above Base Camp, the last encampment before technical (roped) climbing begins......... Posted by: Scott      Read more         Source