Tag: "mutation" at medical news
New treatment effective in counteracting cocaine-induced symptoms
...effects of cocaine in subjects with a rare genetic mutation
thought to disrupt the effects of dexmedetomidine,...nd co-author of the study. Because this particular mutation
is more common in African-Americans than in Caucasians, our study results are applicable to a more d...
Genetic mutations identified for type of gastric cancer
...wo additional families carrying the novel 2398delC mutation
shared a common haplotype (a group of alleles of d...r families, the cumulative risk by age 75 years in mutation
carriers for clinically detected gastric cancer was 40 percent for males and 63 percent for females ...
Mouse model points to possible new strategy for treating rare muscle disease, kidney disorders
...re muscles progressively weaken. It is caused by a mutation
in the GNE gene, which codes for two enzymes that ...ian-Jewish families, which is caused by a specific mutation
in the GNE gene known as M712T. Numerous other GNE mutations can cause HIBM and occur in populations...
When HIV and liver disease co-exist
.../HBV, combination therapy is routine, though viral mutation
and drug resistance remain troubling issues. A key topic of conversation was the development of new agents for treating viral hepatitis in patients with HIV. Challenges include the risk of hepatic injury and low patient tolerance which limits complia...
Genetic marker linked to aggressive prostate cancer
...the country. This is the first time that a genetic mutation
associated with prostate cancer has been found in a large segment of the population. The initial study by deCODE genetics showed that men who carry the genetic marker have a 60 percent increase in risk of the disease. Genetic markers, also called ...
JCI table of contents -- May 17, 2007
...om the University of Melbourne created mice with a mutation
that made the IGD resistant to aggrecanase. They found that blocking cleavage in the IGD diminished the loss of aggrecan and cartilage erosion in animals with osteoarthritis and inflammatory arthritis. In addition, this blockade appeared to stimulate...
Dealing deadly cancers a knockout punch
...ancer cells containing an activated ras pathway, a mutation
present in about two-thirds of all human cancers. Reovirus enters a cancer cell, makes thousands of copies of itself, and then causes the cell to burst, which releases viruses that infect and kill adjacent cancer cells. Normal cells are not harmed. ...
JCI table of contents: May 10, 2007
... 10% of CVID patients. However, just how this TACI mutation
causes CVID remained unknown. In a study appearing...ls. The authors examined mice carrying a C76R TACI mutation
(the equivalent of the human C104R mutation) and found that mutated TACI is unable to bind ligand. B...
JCI table of contents: May 1, 2007
...rticle.php?id=32133 DERMATOLOGY One genetic mutation
heals another in blistering skin disease Mutati...e Biomediche, Milan created mice carrying an R229Q mutation
in the Rag2 gene, a mutation
that has been identified in several OS patients. They found that B and ...
New animal study may explain why alcohol consumption increases breast cancer risk
...gitation of estrogen metabolism and response; cell mutation
by the EtOH metabolite acetaldehyde; oxidative damage; and one-carbon metabolism pathways through reduced folic acid. Methodology To date, there has not been an animal model that faithfully mimics the human disease with respect to characteristic...
New mechanism identified for resistance to targeted lung cancer drugs
... resume growing. About half the time, a secondary mutation
that interferes with the drugs' binding to the rec...ed a line of NSCLC cells with the sensitizing EGFR mutation
and created a cell line resistant to treatment with Iressa. In a number of experiments comparing th...
New biotech company to commercialize novel UD gene-repair technology
...ber of these diseases are caused by a single-point mutation
in a gene--which is like a spelling error, a single letter out of place, in its DNA code. The DNA nucleotide adenine (A), for example, might be replaced by guanine (G), cytosine (C) or thymidine (T). Kmiec and Parekh-Olmedo discovered a way to intr...
Penn study on lung-infecting bacterial enzyme suggests new approach to cystic fibrosis treatment
...ms did not match the pathological effect of the CF mutation
alone. The study was published this month in the Proceedings of the National Academy of Sciences. The research, conducted by Zhe Lu, MD, PhD; Yajamana Ramu, PhD; and Yanping Xu, MD, PhD, of the Department of Physiology, shows that the bacterial enz...
Simmer to receive research in Biological Mineralization Award
...boratory was the first to report a disease-causing mutation
in human MMP20. Two of his papers have won the IADR/AADR William J. Gies award (in 2000 and 2004). Dr. Simmer is an author on six of the 36 most-cited papers in the history of the Journal of Dental Research, dating back to approximately 1955. Most re...
Genetic pathways to curable and incurable forms of pancreatic cancer identified
...y showed that the combination of Kras and an early mutation
of Dcp4, in which one copy of the suppressor gene is eliminated, lead to cancer by a different path, beginning with the creation of a distinct class of precancerous lesions in the ductal epithelium called mucinous cystic neoplasms (MCN). This initiat...
Study examines risk of soft tissue sarcomas in hereditary retinoblastoma survivors
... of soft tissue sarcomas is attributed both to the mutation
in the RB-1 gene that causes retinoblastoma and to the radiation treatment that most retinoblastoma patients received when treated decades ago. Radiation is used less frequently today because of the risk of second cancers. Ruth A. Kleinerman, of the...
Researchers show surprising interaction between genes, gender and hypertension
...nd Huntington's disease, where a single variant or mutation
has a dramatic effect. In contrast to these single-gene-specific diseases, the UCSD researchers observed more subtle variants on six different genes, indicating that multiple genes can contribute to high blood pressure. "We discovered that there's...
M. D. Anderson reports first drug activity in T315I-Positive CML, ALL and JAK-2-Positive MPD
...ty of a kinase inhibitor against the T315I BCR-ABL mutation
found in chronic myeloid leukemia (CML) and acute ... trial showed the first activity against the JAK-2 mutation
found in myeloproliferative disorders (MPD), a group of blood diseases that can evolve into leukemia...
Cancer immunoresistance linked to loss of tumor suppressor gene
...an to see an interesting trend. Glioma cells with mutation
in a specific gene called the phosphatase and tens...oma. This allowed us to study the effects of PTEN mutation
in a very well controlled manner, Parsa said. In glioma patients who have lost PTEN function, the...
Other highlights in the Dec. 6 JNCI
...enter in Salt Lake City, and colleagues examined a mutation
in a gene called BRAF and an increase in the methylation of DNA at specific sites identified as a phenotype, called CIMP, in 1,315 colon cancer patients and 2,392 controls. All of the participants were interviewed about their smoking history and bac...
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