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Tag: "mutation" at medical news

Mutation in the Envelope Gene May Be the Reason for the Development of HIV Linked Cognitive Decline

...V in the brain showed the presence of a particular mutation in the HIV envelope gene. The study analysed about...ent exist across individuals,’ he asserts. Another mutation in the V3 loop appeared consistently in virus from study subjects who demonstrated the most severe c...

Different Disease Response In Identical Twins Linked To Genes

...enetics. Such factors could cause a random genetic mutation or affects how DNA is packaged. "There's a lot of variability in the severity of the disease, symptoms, and the response a patient will have to treatment. Differences in the expression of genes caused by environmental factors that modify DNA have a ...

Gene That Causes Atrial Fibrillation Identified

...y team is the first to identify a specific genetic mutation of the ion channel gene KCNA5 that leads to a dise... of the cell to regulate each heartbeat. The KCNA5 mutation causes loss of function of an atrial-specific potassium ion channel, disrupting electrical synchroni...

Gene Responsible For Mammary Gland Function, When Mutated Results in Leukemias

...This gene results in leukemia only if it undergoes mutation and fuses with another gene. The discovery of the ... (megakaryoblastic leukemia 1), which is part of a mutation that causes acute megakaryoblastic leukemia (AMKL) in children, according to Stephan Morris, M.D., a...

Genetic Variation Linked to Age-Related Macular Degeneration

...individuals age 55 years or older who had the gene mutation CFH Y402H. Information on smoking, CRP serum levels, and other measures were assessed at baseline. The frequency of CFH Y402H was 36.2 percent. At baseline, there were 2,062 persons (36.3 percent) with any type of AMD (prevalent cases). During an a...

Discovery of Agile Molecular Motors Could Aid in Treating Motor Neuron Diseases

...iology, researchers in Holzbaur’s lab found that a mutation in dynactin leads to degeneration of motor neurons, the hallmark of motor neuron disease. This mutation decreases the efficiency of the dynein-dynactin motor in “taking out the trash” of the cell, and thu...

Hail the Tamiflu and Shun the Scam

...fficult for humans to contact the infection unless mutation of the strain can lead to more virulent forms, in the event of which a pandemic is likely to occur fear experts. Members of the community have been asked to report in case of large numbers of dead or sick birds as this an indicator of the likely viru...

Mutation in Breast Stem Cells Lead to Breast Cancer

...at the breast stem cells which have undergone some mutation give rise to the most aggressive form of breast cancers.// The Walter and Eliza Hall Institute researchers were working on mouse models when they found that the breast stem cells do not express receptors for the female hormones oestrogen or progest...

New Technique Identifies Unknown Genetic Mutations That Can Cause Cancer

...quence. We found that the gene, called JAK3, had a mutation that drives the growth of leukemia cells in mice,"...octoral fellow in Gilliland's lab, then tested the mutation in a mouse model. "It was important to show that the JAK3 mutation, when introduced in mice, would l...

Bangkok's Public Health Ministry Clears The Northern Province Of Bird Flu Epidemic

...lso said that the lab test had not found any viral mutation and there were no signs of drug resistance. He further added that the department would soon be launching two mobile laboratories so as to conduct lab test in remote areas. It was explained that each of these mobile laboratories, which would be costin...

Genetic Mutation in Mice Suggests Extinct Mammoth Had Light and Dark Fur

...chers in Germany report the discovery of this same mutation within DNA extracted from a 43,000-year-old bone o...or nearly a century, few suspected that the simple mutation of a single nucleotide could have such a major impact on their coloration. “We were surprised that...

Menin Gene Mutation made Insulin Secreting Cells to Proliferate

...of Medicine reports. In humans menin gene (Men1) mutation can lead to a genetic disease called Multiple Endocrine Neoplasia type 1 (MEN1) and this discovery also has implications for diabetes treatment. MEN1 patients develop mostly benign tumors or hyperplasia (over proliferation of cells) in several endo...

Stanford Researchers Identify A Gene Causing Downs Syndrome

...e further mentioned that though it is known that a mutation in the App gene is responsible for early onset Alzheimer's disease, having three copies of the gene could somehow have a harmful effect on the brain. Professor Mobley said, “There are all of these genes on chromosome 21, and undoubtedly all of them...

New Sleep Gene Discovery Wakes Up Scientists

...ed earlier than we do." "The theory was that the mutation caused (more of the PERIOD protein) so you get a s...uring testing they found the opposite is true: the mutation actually caused the PERIOD to degrade more quickly so that less is present in the body. The findin...

New Diagnostic Tool Uncovered Gene Expression Patterns in Recessive Genetic Disorders

...ity, especially in cases where the disease-causing mutation is unknown or uncharacterized at the DNA level. Based on the results of the study, Cheung and Ewens also suggest that recessive mutations can significantly contribute to human variation. ‘If each of us is a carrier for three or four harmful recessi...

WHO Warns That Bird Flu Virus Could Mutate Anytime

...hat the risk of the H5N1 virus undergoing a lethal mutation is still high. In a report analyzing 205 infections that occurred from December 2003 and April 2006. // Since the human infections have peaked in winter and spring months, the WHO also warned that the same could happen towards the end of this year o...

A New Test Developed to Identify Suspected Bowel Cancer Patients

...ent and will help identify relatives with the same mutation who might have a great increase in the risk of cancer. The researchers said that around 20,000 people in the general population are thought to have this exacting class of genetic defect, which is associated with a very high risk of cancer. They exp...

Studies Report Mammograms Unsafe

..., doctors suggested. Genetic testing to detect a mutation in men and women with a family history of breast o...tionally recommend that high-risk women—especially mutation carriers—start screening with mammography at 25”. "This [study] calls into question, is it possible...

Researchers Have Linked Rett Syndrome to Mitochondrial Gene

...ans. "Our findings provide a mechanism for how a mutation in MECP2 could result in abnormal mitochondrial function," says Kriaucionis. "I'm very excited about this paper," says Bruce Cohen, a pediatric neurologist who specializes in mitochondrial diseases at the Cleveland Clinic in Cleveland, Ohio. Dr. Co...

New Drugs Could Save Lung Cancer Patients

...of people with cancer could have this gene and the mutation is thought to be connected to smoking. Of this group, 80 per cent of people tested benefited from the drugs, Dr Jeffrey Settleman, a US scientist claimed. He told delegates at a conference on cancer in Glasgow that he has identified a way of over...

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