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Tag: "mutations" at medical news

A new century of Alzheimer's disease research

...brain plaques and tangles. Then scientists linked mutations in two other genes to early-onset Alzheimer’s, and... M.D., independently found that all three of these mutations increase the production of either AB in general, or a particular type of AB that is made up of 42 am...

Skin Cancer can Be Triggered by P53 Mutation

...rise to a loss-of-function whereas the majority of mutations result in a gain-of-function. In the first of th...rmine whether gain-of-function or loss-of-function mutations in p53 are more critical for SCC development. The authors show that certain p53 mutations occurrin...

New Asthma Gene Identified

...et asthma and 1,243 non-asthmatics. They looked at mutations in the building blocks that make up DNA, called nucleotides. There are mutations in around one in every 600 nucleotides, and scientists examined more than 317,000 of these mutations...

Protein That Absorbs Lipids may Provide Future Weight-loss Strategies

...that these things may apply to humans. Humans with mutations in the gene that makes CD36 don't seem to process ...hat people have different amounts of CD36 and that mutations in the gene are quite common," she said. "Those variations are associated with abnormalities of b...

British Woman Who Has inherited Breast Cancer Wants to Spread Awareness

...rse at Cancer Research UK, says that cancers where mutations of the genes BRCA1 and BRCA2 play a role are around five per cent of the 41,000 cases diagnosed each year. "We've identified a couple of genes which we know are implicated in some breast cancers but it's clear that there are others which haven't ye...

Boffins Identify Gene That can Protect Humans from Nephronopthisis

...invasive therapies. The team has discovered that mutations in the gene GLIS2 can lead to nephronopthisis (NPH...having NPHP. They found that some patients carried mutations in the same GLIS2 gene as in the mouse model confirming that GLIS2 is a crucial player in NPHP also ...

New Therapies for Kidney Diseases

...t online issue of Nature Genetics they report that mutations in the gene cause nephronopthisis (NPHP) in humans...nd that like the mouse model some patients carried mutations in the same GLIS2 gene, confirming that GLIS2 is a crucial player in NPHP also in humans. This is...

Natural Selection in Butterflies

...pen very fast." Charlat pointed out that, unlike mutations that govern such traits as wing color or antennae length, a genetic change that affects the sex ratio of a population has a very wide impact on the biology of the species. It is not yet clear whether the suppressor gene emerged from a chance mutati...

Scientists Identify Previously Undetected Drug-resistant Forms of HIV

...uencing technology that quickly detects rare viral mutations was used during the study. We found that the fraction of HIV patients that harboured resistance mutations is at least twice as high as previously thought, said Dr. Kozal, who also directs the HIV Program at...

Genome Annotation by Mutation

...es can result not only from mutant genes, but from mutations of other DNA that controls genes. Diseases are k...ely long to very long pieces of DNA and make those mutations happen much more frequently than other methods can. That makes it easier to find out what defects or...

Boffins Develop New Technique to Hunt Illness-causing Mutants in Non-gene DNA

...n result not only from mutant genes, but also from mutations of other DNA that controls genes. "Diseases are ...ly long to very long pieces of DNA, and make those mutations happen much more frequently than other methods can, makes it easier to determine what defects or dis...

Rare Womens Lung Disease May Yield Insights Into Common Diseases

...ely. As part of her work, Henske discovered that mutations in the tuberous sclerosis gene, which triggers TSC, a genetic disorder that causes tumors to form in many different organs, including the brain, eyes, heart, kidney, skin and lungs, plays a role in the cause of LAM. Her current work involves looking ...

Parkinsons Disease Protein Pathway Identified

...naling pathway in cells that is altered by genetic mutations recently identified in Parkinson disease development. These new findings show how the mutations affect cellular function and could provide a target for drug therapies to treat the disease. Park...

Now, FISH on a Chip for Quicker, Cost-effective Cancer Diagnosis

... hybridization (FISH), a complex test that detects mutations in chromosomes for a number of different types of ...uct the test. The rapid detection of chromosomal mutations with the help of new technology, say researchers, will significantly increase a doctors ability to ...

Women With Few Older Female Relatives Face Cancer Threat

... few older females in the family. The BRCA gene mutations were detected in 13.7 percent of those with few older female relatives compared to 5.2 percent among women with plenty of female relatives....

Protein Pathway Involved in Parkinson Disease Development Identified

...rotein pathway in cells that is altered by genetic mutations recently identified in Parkinson disease developme...ently have linked early onset Parkinson disease to mutations in both copies of the mitochondrial protein PINK1 gene (one from each parent) that normally protects...

Researchers Have Found the Role of Protein in Accelerating Breast Cancer Progression

...rough stages of increasing malignancy triggered by mutations that promote their growth," said Thomas Deuel, the Scripps Research scientist whose laboratory made the discovery. "The major finding of our study demonstrates both in vivo and in vitro that inappropriate expression of PTN not only promotes breast c...

Neurological Disorder Gene Identified

...der of unknown cause. In four patients, they found mutations of FIG4, the same gene implicated in the diseased mice. The finding has resulted in a newly identified form of the disease called CMT4J. In the phase of the research involving human patients, the multidisciplinary team of U-M scientists collaborate...

Maths Theory Shows Genetic Pattern of Tumour Growth

...e its own growth. The researchers say that such mutations can cause cancer cells to proliferate or to die. It was found that tumours grow best when cancerous cells mutate to speed up malignant transformation, and then stay that way by turning off the mutation rate. Mathematical theory can help us unders...

Genetic Cause of Inherited Eye Diseases Identified

...hout much purpose. But new research has shown that mutations in genes that encode the proteins of cilia are com... to be able to more quickly find the exact genetic mutations that cause these 23 cilia diseases, which include eye and kidney diseases, among others. Pierce is...

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