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Tag: "mutation" at medical news

Boffins Identify Fifth Gene Behind Joubert Syndrome

...ings are important. They say that the discovery of mutation in the gene (RPGRIP1L) now paves the way for definitive DNA testing that can more conclusively diagnose JS in some patients, and also identify asymptomatic carriers who might unknowingly pass the condition to their future children. Apart from ident...

Myelin Associated With Early Evolution of Huntington's Disease

...t risk. While it is known that HD is caused by a mutation in a gene called Huntingtin (Htt), the correct mechanism by which the Htt gene causes or contributes to neuronal cell death and HD symptoms remains uncertain. Bartzokis' research suggests that it is Htt's influence on myelin that may prove to be the ...

The DNA That Spells Double Risk of Heart Attack

...y stage in life. Those portraying one copy of the mutation carry a 50 per cent chance of suffering an "early onset" heart attack compared to those portraying “normal" DNA. The scientists are planning to design a test which would enable doctors to spot people in the risk category and also those who are gene...

Chinese Medicinal Compound Stops Formation of Cysts in Polycystic Kidney

... no more growth is needed. In people who have a mutation in one of these growth regulatory proteins, however, the message to stop growing never gets delivered, even when urine is flowing and the cilia are bending. It is as if the phone is ringing but the cell can't hear it. So, never sensing a signal to st...

New Mechanism Identified for Resistance to Targeted Lung Cancer Drugs

...d 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 the...

Scientists Explore ‘muscle’ in a New Drug to Assuage Muscular Dystrophy Symptos

...phy. In mice, the drug assisted in superseding the mutation in the dystrophin gene, which obstructs the production of the protein. Expressing optimism over the potential of the new drug, lead researcher Dr H Lee Sweeney said, "This new class of treatment has the potential to help a large number of patients...

Potential Lifesaver Drug Announced

...ique about this drug is it doesn’t just target one mutation that causes disease, but a whole class of mutation...t majority of CF patients have a different type of mutation from the rare nonsense mutation which is specifically targeted by this class of compounds. Gene ther...

New Light on Working of Brain Networks

...stress. “We find it remarkable to relate a genetic mutation in patients to the regulation by an ion channel of PFC neuronal networks,” said Arnsten. Co-authors include Min Wang, Brian Ramos, Yousheng Shu, Arthur Simen, Alvaro Duqye, Avis Brennan, Susheel Vijayraghavan, Anne Dudley, Eric Nou, David McCormick...

Brain Networks Strengthened by Closing Ion Channels

...stress. “We find it remarkable to relate a genetic mutation in patients to the regulation by an ion channel of PFC neuronal networks,” said Arnsten. Co-authors include Min Wang, Brian Ramos, Yousheng Shu, Arthur Simen, Alvaro Duqye, Avis Brennan, Susheel Vijayraghavan, Anne Dudley, Eric Nou, David McCormick...

Is There Any Clinical Benefit to Staying on a Failing Regimen?

...tions (TAMS) accounted for 75% of all DRGs and the mutation was primarily at the 184V codon. The evolution of resistance was then evaluated between the baseline test (t0) and a subsequent test a median of six months later (t1) (range 2-28 months). From the time of the first genotypic test to the second, 77%...

The Gen(i)e Behind Fatsos

...hers has shown that, //if genes called FTO portray mutation in both their copies, then such people stand a 70% chance of being over weight, as compared to people who possess normal copies of the gene. Researchers do not have the complete story yet. With a faint idea of what is happening, this research could...

Discovery in Male Mice Gives Hope in Providing Clues to Find Infertility in Men

...pe with Cornell// researchers' identification of a mutation in a gene that causes male infertility in mice. Because this is the first time that a dominant mutation that leads specifically to infertility in a mammal has been discovered, the researchers say they can...

More Mutations Of Gene That Cause Skin Disorders And Asthma Discovered

...a they found that around half carried at least one mutation in the filaggrin gene that would prevent productio...gens, which drive the immune system haywire. A mutation to one gene is enough to cause ichthyosis vulgaris, a dry, scaly skin. If both genes are faulty, the...

Researchers Identify Gene That Plays Key Role in Size of Dogs -- and Probably in Humans

...g researchers from Cornell University, has found a mutation in a single gene that plays a key role in determin..., such as jackals. Researchers suspect a single mutation early in the domestication history of dogs created a "small dog" version (or allele) of IGF1. This m...

ChemGenex Treats First Patient With Ceflatonin

...linical trial in CML patients with the T315I point mutation and will recruit CML patients from chronic, accelerated and blast-phase disease states. The patient was enrolled into CML-203 at the MD Anderson Cancer Center in Houston, Texas, and ChemGenex is expanding the study to an estimated 15 centers thro...

Brain Tissue Reveals Possible Genetic Trigger for Schizophrenia

...’s disease or cystic fibrosis, the basis is a gene mutation that leads to a malformed protein. But with other complex genetic disorders – such as schizophrenia, many cancers, and diabetes – we find not mutated proteins, but correctly formed proteins in incorrect amounts,” said study lead author and UNC profes...

Gene Mutation Linked With Risks of Stroke

...a stroke during that time. Those with a particular mutation to the HFE gene (also known as the haemochromatosis gene) were found to be two to three times more likely to develop the condition. Yet, the researchers do not know how this genetic defect, which is carried by about a quarter of people in northern...

New Ribosome Finding Could Lead to Antiviral Therapies

... of the cell. We found that the cells with this L3 mutation could not reproduce viruses. “These mutant forms of L3 also made cells resistant to certain antibiotics. Understanding how these mutants affect the interactions between ribosomes and factors that lead to drug resistance can provide the foundation f...

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...

Severe Mental Retardation Gene Mutation Identified

Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis,// according to a study. Investigators F. Lucy Raymond, University of Cambridge and Patrick S. Tarpey Wellcome Trust Sanger Institute, UK describe...

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