Mutant in Medical News

Generation of a severe memory-deficit mutant mouse by exclusively eliminating the kinase activity of CaMKIIalpha

Ca2+/calmodulin-dependent protein kinase II alpha (CaMKII alpha) is an enzyme that adds phosphates to a variety of protein substrates to modify their functions. CaMKII alpha is enriched in the hippocampus, the memory center of the brain, and is believed to be an essential mediator of activity-dep...

'Intrabody' can mop up mutant protein in Huntington's disease model

Scientists have created a tool for mopping up the clumps of mutant protein that drive neurodegeneration in Huntington's disease. Emory University researchers engineered a virus to make an intracellular antibody or "intrabody" against huntingtin, the protein whose mutant forms poison the brain cell...

Effect of mutant p53 stability on tumorigenesis and drug design

In the May 15th issue of G&D, Dr. Guillermina Lozano (MD Anderson Cancer Center) and colleagues reveal how the stabilization of a mutated form of p53 affects oncogenesis, and lends startling new insight into the potential pitfalls of using Mdm2 inhibitors for cancer therapy. "Our data are both ...

Chronic Kidney Disease Related To Mutant Gene

Scientists at the University of Michigan Medical School have uncovered the reason for a severe form of kidney affliction and renal failure //in children, which is because of mutations in a gene called phospholipase C epsilon or PLCE1. Discovering the mutant gene is crucial to scientists becau...

Gene Transfer Using Mutant Form of Good Cholesterol Cuts Vascular Plaque and Inflammation

Transfer of a gene that produces a mutant form of good cholesterol provides significantly better anti-plaque and anti-inflammation benefits than therapy// using the “normal” HDL gene, according to a mouse study conducted by cardiology researchers at Cedars-Sinai Medical Center and reported in the O...

New Drugs To Combat Mutant Bugs

A newly approved drug to battle super bugs, including MRSA, has found its way to the markets of Scotland.// Clinicians welcomed the news as Tygacil, is one of the few new antibiotics to come on to the market in the past 15 years. Micro organisms have undergone mutations that enabled the...

Developing gene therapy to fight blindness

...el of RP with a similar MERTK mutation, the researchers have demonstrated in proof-of-concept studies that viral vector delivery of MERTK corrects the mutant gene and restores vision. The eye is an ideal place for gene therapy because it's an "immune-privileged site," meaning that the eye is able to tol...

Aethlon Medical Announces U.S. Army Agreement

...hlon also disclosed that studies previously conducted by USAMRIID have documented the Hemopurifier(R) captures approximately 50% of both wild type and mutant strains of ZEBOV from fluids during one hour in vitro studies. ZEBOV has the highest virus case-fatality rate, up to 90% in some epidemics, with an...

New drug candidate prolongs the lives of pancreatic cancer patients

...alirasib works by inhibiting a protein called Ras, which is known to be abnormally activated in one-third of human cancers. In cancer of the pancreas, mutant forms of Ras are found in up to 90% of all tumors. Salirasib's basic component, FTS, works to block the formation of cancer-promoting Ras nanoclusters...

DNA-damaged cells communicate with neighbors to let them know they're in trouble

... humans, she said. "With regard to cancer, we found that if there is a mutant and potentially cancerous cell in the vicinity of the damaged cell, the signals from the damaged cell can encourage that mutant cell to behave more aggressively cancerous," said Campisi. "With regard to ...

New role discovered for molecule important in development of the pancreas

..., stage," Stoffers says specifically, in the formation of Ngn3-expressing endocrine progenitor cells. Further molecular characterization of these mutant mice led the team to conclude that Pdx1 is a master regulator of the development of endocrine cell precursors. Pdx1 binds directly to the Ngn3 gene, c...

Discovery Sheds Light on Huntington's Disease

...Huntington's have a genetic defect that produces a mutant version of the protein "huntingtin," which accumul... only in the corpus striatum -- interacts with the mutant huntingtin proteins, causing cell death. The fi...s found that rhes interacted with both healthy and mutant versions of huntingtin protein, but that it bound ...

Penn study demonstrates new way to boost immune memory

...ent with the microarray findings, CD8 T cells lacking TRAF6 display defective fatty acid oxidation in response to growth factor withdrawal. Giving the mutant mice the metformin restored fatty acid oxidation and the generation of memory cells that lack TRAF6. Remarkably, this treatment also increased the ge...

Most common brain cancer may start in neural stem cells

...ma. The U-M scientists show that the expression of mutant p53 protein is a marker for glioma cells in all st...ority developed malignant brain tumors, and that a mutant form of p53 was present in the tumor cells, a phen...nd in human glioblastoma. "Then we asked, does mutant p53 have any role in tumor initiation and progress...

Most common brain cancer may originate in neural stem cells

...ma. The U-M scientists show that the expression of mutant p53 protein is a marker for glioma cells in all st...ority developed malignant brain tumors, and that a mutant form of p53 was present in the tumor cells, a phen...nd in human glioblastoma. "Then we asked, does mutant p53 have any role in tumor initiation and progress...

The vulnerable cancer cell

...nefit (that is, their tumors shrink) when treated with an inhibitor of that mutant kinase. The probability of success in such patients is so high that drug di...et, but STK33 is selectively required for the survival and proliferation of mutant KRAS-dependent cancer cells," Gilliland said. In the experiments reporte...

'Happy hour' gene discovery suggests cancer drugs might treat alcoholism

...own role in controlling the insects' response to alcohol. Animals with a mutant version of the gene grow increasingly resistant to alcohol's sedative effec...in mammals. In search of more in the new study, the researchers screened mutant flies for those less sensitive to ethanol. That screen led them to happyhou...

Salmonella's sweet tooth predicts its downfall

... into the immune cells they occupy and unable to use glucose as food. These mutant strains lost their ability to replicate within immune cells, rendering them...jor sugar used by Salmonella during infection," said Dr Thompson. The mutant strains still stimulate the immune system, and the scientists have filed pa...

Sunesis Reports Financial Results for the First Quarter 2009

...poside. Data also established an enhanced sensitivity to voreloxin in BRCA2 mutant cell lines, indicating that BRCA mutant tumors may be particularly sensitive to voreloxin. These data complement pr...

AAI honors Chen Dong for breakthrough T lymphocyte research

...d IL-17 was produced by a T cell of a type unknown. Dong returned to his mutant mice and found minimal levels of IL-17. "So we thought maybe IL-17 is more ...s out to rely on the ICOS receptor that was missing from the T cells of the mutant mice. Paper reveals new path to autoimmune and inflammatory diseases ...

X-Men's Wolverine Depends on Milk as His X-factor

...p://www.newscom.com/cgi-bin/prnh/20090416/AQ99876 ) Wolverine's unique mutant power is the ability to rebuild his body far faster than any ordinary human... refuel. So eat right, train hard and drink lowfat milk. That's just common mutant sense." The ad debuts on April 17 in Rolling Stone . About Body By M...

Reversing effects of altered enzyme may fight brain tumor growth

... blood vessels increases, allowing more nutrients and oxygen to fuel cancer growth. They have also shown in the laboratory that they could reverse the mutant enzyme's effects, effectively blocking this process, called angiogenesis, and provide a potential future treatment strategy against some types of brai...

JCI online early table of contents: April 13, 2009

...h larvae are transparent and small, which makes them ideal for in vivo imaging studies. In the study, the researchers generated zebrafish expressing a mutant form of human TAU associated with FTD and fluorescently labeled the cells expressing this protein, which enabled them to image the brain cell death ac...

Scripps research scientists model 3D structures of proteins that control human clock

...ot of the protein, which he then crystallized to determine the atomic structure by using X-ray diffraction. The researchers then produced a variety of mutant proteins in order to test the functional structure of the enzymes. "We can now look at things that are the same and different between human and mou...

Penn researchers identify new protein important in breast cancer gene's role in DNA repair

...ied the role of a BRCA1-associated protein called RAP80. The BRCA1 protein works in partnership with RAP80 to locate damaged DNA sites. Cancer-causing mutant BRCA1 proteins fail to pair up with RAP80, which, in turn, blinds BRCA1 to DNA damage. The results of the study led Greenberg's group to look closer a...

Researchers develop DNA 'patch' for canine form of muscular dystrophy

...les as molecular "patches." These patches cover up mutant DNA sequences that code for making an important muscle protein. The mutant sequences occur in portions of the gene known as e...ed to make the muscle protein. By covering up the mutant regions, the DNA patches allowed the dogs to make ...

Misplaced metamorphosis

.... In FOP, the body forms a second skeleton as a result of the transformation of normal muscle tissue into normal bone. That change is caused by a mutant gene that encodes a receptor, or switch, for BMPs and was discovered by the Penn scientists in April 2006. In 2007, the Penn group identified the sem...

Human stem cells provide a new model for Lou Gehrig's disease

...neurons from human embryonic stem cells (ES cells), which express normal or mutant forms of the SOD-1 gene, which is linked to inherited, familial ALS. Resul...hibit hallmark characteristics of motor nerve cells, and neurons expressing mutant SOD-1 display abnormalities typical of ALS. Defects included shortened cel...

Mutant rats offer clues to medical mystery

... have the mutation, and early results are promising. "The prediction is the mutant rats have a lower bone density. And I think if we complete and confirm that... Lung Blood disease at the National Institutes of Health. Kohn will now use mutant and normal rats to find additional genes that respond to warfarin, with two...

Scientists uncover secrets of potential bioterror virus

...e vaccine strain of the virus that Ikegami modified, known as MP-12, can safely be handled inside a standard biosafety cabinet. Using the NSs-free mutant virus to perform a series of cell-culture experiments, the researchers found that NSs does in fact have a second function. It attacks a protein called...

Autism Consortium members publish in PNAS: Mechanism, treatment for Rett syndrome -- top cause autism girls

...am molecules within neurons that make synapses mature. This activity in turn ends the developmental arrest thought to underlie the syndrome. Using mutant mice in which MeCP2 is deleted, Sur and his co-authors demonstrated a major underlying mechanism for the disordersynapses in the brain remain immature...

Worm provides clues about preventing damage caused by low-oxygen during stroke, heart attack

...sitivity to a low-oxygen environment. They did that by identifying a gene that controls the translation of genetic information into specific proteins. mutant copies of the gene cut translation rates in half, which conferred 100% survival to the animals compared to 100% death in non-mutant worms. Crowder ...

Oncogene inhibits tumor suppressor to promote cancer: Study links B-RAF and LKB1

...ownstream of B-RAF, ERK and Rsk. The phosphorylation of LKB1 interfered with the ability of LKB1 to bind and activate AMPK. Importantly, expression of mutant LKB1 that could not be phosphorylated resulted in activation of AMPK and an inhibition of melanoma cell proliferation. "Taken together, our results...

Also in the Jan. 27 JNCI

... with a family history of MNG. Introduction of the mutant gene into cells grown in vitro increased their pro...the threonine at position 670 and introduced these mutant genes into cells. The researchers also modeled the relative affinity of ATP and imatinib for the mutant proteins using computer simulations. Only cells...

Researchers Zero In on GI Cancers

... economic model and found that testing for KRAS status in all newly diagnosed patients would cost $13 million, while unnecessarily treating those with mutant KRAS genes would cost $617 million, resulting in a net savings of $604 million. The study was led by Dr. Veena Shankaran, a postdoctoral fellow at ...

McGill, MUHC and Douglas researchers get top marks from Quebec Science magazine

... recipient cell, they can trigger specific mechanisms to make it act in a malignant and aberrant way. "With this information we can imagine that many mutant proteins are not necessarily confined to the cells that make them, but rather can migrate and spread around," explained Dr. Rak. "This goes against th...

Onyx Pharmaceuticals Acquires Option to License Novel Highly Specific JAK2 Inhibitors From S*BIO

...tfolio through deals with staged investments as value-creating events occur." SB1518 (ONX 0803) has been designed to suppress the overactivity of mutant JAK2 and is currently in multiple Phase 1 studies. Data from these Phase 1 dose-ranging studies, evaluating the compound in patients with primary mye...

Redesigned protein accelerates blood clotting

...the chemical and thermal stability of mutated forms of factor VIII containing one of the single mutations proved earlier to increase stability against mutant forms with combinations of the same mutations. In all cases buried charged amino acids were replaced by non-charged substitutes. While they found seve...

Mutations common to cancer and developmental disorder examined in a novel disease model

...elopmental process. They found that the effect of mutant H-RAS in part depends on the timing and level of g...cent of tumors. Furthermore, zebrafish expressing mutant H-RAS through development displayed hallmarks of t...the developmental processes that control cancerous mutant H-RAS effects can potentially lead to novel cancer...

Molecular marker identifies normal stem cells as intestinal tumor source

...cent years, researchers have developed evidence that cancers may arise from mutant forms of stem cells. Like a brand-name product instantly identifiable b...in, pancreas and other tissues. "The idea that cancers might arise from mutant stem cells is an attractive one; but until now the link between normal and ...