Mutation News and Research

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Mitochondria and apoptosis research

The story of how mitochondria are recruited during times of stress to choreograph apoptosis--the cell's dance of death--is a story that fails to tell which particular set of steps the cells use most often, according to investigators at St. Jude Children's Research Hospital and the La Jolla Institute of Allergy and Immunology (San Diego, CA).

9 Oct 2005

Discovery of new features of a key quality-control mechanism in our cells

Mutations in genes are the basis of evolution, so we owe our existence to them. Most mutations are harmful, however, because they cause cells to build defective proteins. So cells have evolved quality control mechanisms that recognize and counteract genetic mistakes.

9 Oct 2005

Gene variation may play fundamental role in the development and spread of cancer in the body

New research shows that a small gene variation that increases the risk of inherited cancer can also arise during the development of spontaneous, or non-inherited, tumors.

9 Oct 2005

RPL26 and nucleolin play critical roles in controlling the production of p53

Investigators at St. Jude Children's Research Hospital have discovered a previously unrecognized mechanism that controls a key protein linked to the cell's response to stress - a finding that holds promise for new ways to enhance cancer therapies or protect cells from dying after exposure to damaging chemicals or radiation.

9 Oct 2005

Avian influenza and the U.S

If a virulent strain of avian influenza ever struck the U.S. poultry industry, this country probably would fare better than many other nations due to careful biosecurity procedures in force.

9 Oct 2005

Particular versions of the TGFb1 gene are largely responsible for how badly the illness affects patients' lungs

Subtle differences in other genes -- besides the defective gene known to cause the illness cystic fibrosis -- can significantly modify the inherited disease's severity, a large new multi-center national study has concluded.

5 Oct 2005

Influenza evolution in action

On the eve of the 2005-06 flu season, scientists at The Institute for Genomic Research (TIGR) have captured influenza evolution in action. In a study published in this week's journal Nature, the researchers report the first large-scale project to sequence the influenza virus.

5 Oct 2005

Divalent metal transporter-1 decreases metal-related injury in the lung

Multi-vitamin products, nutritional supplements and parents tout the need for such mineral elements as calcium, zinc, phosphorus, iron and others.

4 Oct 2005

Researchers identify gene defect in mice that causes cyclical hair loss and skin cancer

Researchers at Jefferson Medical College and at the Wadsworth Center in New York have identified a gene defect in mice resulting in a range of abnormalities, from cyclical hair loss and skin cancer to severe problems in normal skin development.

4 Oct 2005

Discovery has implications for research on restoring mobility to people who have lost motor functions due to spinal cord injury

Yale School of Medicine researchers report in Science this week genetic evidence for the hypothesis that myelination, or formation of a protective sheath around a nerve fiber, consolidates neural circuitry by suppressing plasticity in the mature brain.

3 Oct 2005

Greasing the gears that drive the interferon signal

Interferon -- a critical protein that mediates the body's defense against a wide variety of infectious agents and tumors -- may soon have greater therapeutic value as the result of a new study by researchers at Washington University School of Medicine in St. Louis.

3 Oct 2005

First identification of the genetic basis of disease in a patient with a complex I assembly defect

Mitochondrial complex I deficiency is one of the most common defects in patients with mitochondrial disease. The deficiency results from a failure to assemble the enzyme properly, but the nature of the molecular chaperones that are necessary for this process in mammals have remained obscure.

3 Oct 2005

Fruit fly discovery could lead to a completely new approach to tackling some cancers

Scientists studying the humble fruit fly have found a family of proteins that enhances the sensitivity of a cell to a hormone that can trigger abnormal growth and cancer. Their discovery could lead to a completely new approach to tackling some cancers and the development of new drugs to stop uncontrolled growth in a wide variety of tumour cells.

28 Sep 2005

Common form of thalassaemia can be managed without blood transfusion

Haemoglobin E â thalassaemia - the commonest form of severe thalassaemia in many Asian countries - can be managed without transfusion in many patients, suggests a research letter published online today (Thursday September 29, 2005) by The Lancet.

28 Sep 2005

Discovered of gene mutations associated with hereditary neuralgic amyotrophy

In a significant advance toward understanding a perplexing and painful neurological disorder, an international team of researchers has discovered gene mutations associated with an inherited chronic pain and weakness syndrome known as hereditary neuralgic amyotrophy (also called HNA).

27 Sep 2005

Farnesyl transferase inhibitors may help chidren with Hutchinson-Gilford progeria syndrome

Johns Hopkins scientists have discovered that a drug currently being tested against cancers might help children with a rare, fatal condition called Hutchinson-Gilford progeria syndrome, which causes rapid, premature aging.

27 Sep 2005

Gene responsible for Neuralgic Amyotrophy identified

Neuralgic Amyotrophy is a painful disorder of the peripheral nervous system. This heritable disease causes prolonged acute attacks of pain in the shoulder or arm, followed by temporary paralysis.

27 Sep 2005

Researchers at Johns Hopkins have identified three new genetic mutations in brain tumors

...a discovery that could pave the way for more effective cancer treatments.

27 Sep 2005

Testing for drug resistance in HIV-infected patients at the time of diagnosis may increase patients' life expectancy

Resistance to antiretroviral therapy, even in patients who have never received treatment, is a growing concern. However, genotype resistance testing, which involves looking for the presence of resistance genes, is not a standard procedure at the time a patient is diagnosed with HIV, probably due to lack of data on its benefits and its relatively high cost compared with other routine blood tests.

26 Sep 2005

Mutations in receptor tyrosine kinases provide potential for highly-targeted cancer therapies

Scientists from J. Craig Venter Institute, Ludwig Institute for Cancer Research, and The Johns Hopkins University School of Medicine identified three novel mutations in two receptor tyrosine kinases in glioblastoma tumors using high throughput sequencing.

26 Sep 2005

Mutation News and Research

Mitochondria and apoptosis research

Discovery of new features of a key quality-control mechanism in our cells

Gene variation may play fundamental role in the development and spread of cancer in the body

RPL26 and nucleolin play critical roles in controlling the production of p53

Avian influenza and the U.S

Particular versions of the TGFb1 gene are largely responsible for how badly the illness affects patients' lungs

Influenza evolution in action

Divalent metal transporter-1 decreases metal-related injury in the lung

Researchers identify gene defect in mice that causes cyclical hair loss and skin cancer

Discovery has implications for research on restoring mobility to people who have lost motor functions due to spinal cord injury

Greasing the gears that drive the interferon signal

First identification of the genetic basis of disease in a patient with a complex I assembly defect

Fruit fly discovery could lead to a completely new approach to tackling some cancers

Common form of thalassaemia can be managed without blood transfusion

Discovered of gene mutations associated with hereditary neuralgic amyotrophy

Farnesyl transferase inhibitors may help chidren with Hutchinson-Gilford progeria syndrome

Gene responsible for Neuralgic Amyotrophy identified

Researchers at Johns Hopkins have identified three new genetic mutations in brain tumors

Testing for drug resistance in HIV-infected patients at the time of diagnosis may increase patients' life expectancy

Mutations in receptor tyrosine kinases provide potential for highly-targeted cancer therapies

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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