Mutation News and Research

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Data supports use of personal and family history of breast cancer, ovarian cancer, or both in making clinical decisions

African American women at high-risk of breast cancer have genetic mutations that would make genetic testing feasible, according to a study in the October 19 issue of JAMA: The Journal of the American Medical Association.

18 Oct 2005

Yeast cells help show how GSAO (glutathionarsenoxide) angiogenesis inhibitor drug works

The humble yeast has revealed the molecular workings of an anti-cancer drug that stops the growth and spread of tumours in humans by starving their blood supply.

18 Oct 2005

People who carry a mutation in the melanoma susceptibility gene CDKN2A have a much lower risk of melanoma

In addition, most familial clusters of melanoma occur in families without identifiable mutations in this gene, according to a new study that appears in the October 19 issue of the Journal of the National Cancer Institute.

18 Oct 2005

Newly discovered role of MECP2 gene in Rett Syndrome

Huda Zoghbi, of Baylor College of Medicine and the Howard Hughes Medical Institute and Juan Young, also of Baylor and colleagues report in the online Early Edition of the Proceedings of the National Academy of Science, posted the week of October 17, 2005, that the Rett Syndrome gene, MECP2, regulates RNA splicing.

18 Oct 2005

Study identifies molecular switch that integrates cell survival signals from multiple intracellular signaling pathways

The finding has substantial clinical significance, as mutations in these cell survival-signaling pathways are associated with many human cancers, and a better understanding of how these pathways converge to regulate the delicate balance between cell proliferation and cell death may lead to development of more effective cancer therapies.

17 Oct 2005

New tool that may prove to be invaluable for investigating the long-term mutagenic effects of chemotherapy and radiation

Scientists have developed a new tool that may prove to be invaluable for investigating the long-term mutagenic effects of chemotherapy and radiation, therapies that are widely used for the treatment of cancer.

17 Oct 2005

New treatment for the pediatric eye cancer retinoblastoma

Investigators at St. Jude Children's Research Hospital have demonstrated in laboratory studies a new treatment for the pediatric eye cancer retinoblastoma that appears to be more effective than the current standard therapy, and more likely to prevent the recurrence of this cancer. A report on their work appears in the October 15 issue of Clinical Cancer Research.

17 Oct 2005

Rett syndrome discovery

The gene responsible for Rett syndrome, a devastating neurological disease found mostly in girls, not only silences some genes but in combination with another also regulates alternative splicing, crucial to the formation of proteins -- a finding that may explain the symptoms associated with this puzzling disorder and others related to it

17 Oct 2005

New findings on brain tumors called ependymomas

Brain tumors called ependymomas that occur in different parts of the central nervous system appear to arise from subpopulations of stem cells called radial glia cells (RGCs), according to investigators at St. Jude Children's Research Hospital. The discovery explains why some identical-looking ependymomas are actually distinctly different diseases, the researchers said.

17 Oct 2005

Greece and Croatia test for bird flu, while Europe gets more jittery

While authorities in Greece anxiously await test results on eight dead birds found in the northeastern Evros River delta, in another main migratory route, Croatia had also started testing dead birds found by citizens.

17 Oct 2005

Ethnic differences in cardiovascular risk factors

Heredity plays a major role in determining the blood lipid profile and heart rate variability of blacks and whites, two major risk factors for coronary artery disease, researchers say.

16 Oct 2005

Discovery could help make cellular immunotherapy safer

Researchers at the University of Michigan's Comprehensive Cancer Center have discovered the secret weapon behind the most powerful form of cancer immunotherapy known to medicine.

16 Oct 2005

E-cadherin, that cellular touch so important in cancer

E-cadherin is a molecule involved in adhesion between epithelial cells that also seems to have a protective role in cancer, since its loss is associated with tumour progression and metastases formation in a series of different cancers.

16 Oct 2005

Europe frantically prepares for possible bird flu pandemic

The confirmation by British laboratory tests that the H5N1 deadly strain of bird flu had reached mainland Europe for the first time, has prompted Romanian authorities to slaughter poultry and send in doctors.

16 Oct 2005

First gene mutation associated with Tourette syndrome

Researchers have identified the first gene mutation associated with Tourette syndrome - opening a new avenue for understanding the complex disorder that causes muscle and vocal tics.

13 Oct 2005

SLITRK1 gene appears to contribute to some cases of Tourette's Syndrome

In what may be a major milestone in Tourette's Syndrome (TS) research, scientists at Yale School of Medicine and their colleagues have identified a gene called SLITRK1 that appears to contribute to some cases of TS, according to a report in the October 14 issue of Science.

13 Oct 2005

Personalized medicine to improve the outcome for breast cancer patients

As cancer remains a leading cause of death in the United States, early detection and treatment are critical keys to improving the survival rate. Yet, an individual's response to treatment varies considerably, even among cancers of the same histological type.

12 Oct 2005

Biologists uncover pivotal role of a gene called "Cut"

A DNA-binding protein, Cut interprets and transcribes the developmental signals sent through the "Notch" gene, which regulates a layer of epithelial cells as they replicate and divide. But when Cut garbles those signals the result is uncontrolled cell proliferation, sometimes with dire genetic and health consequences.

12 Oct 2005

Prozac helps learning and memory in people with Huntington's disease

People with Huntington's disease have progressive motor problems, cognitive deficits (dementia) and psychiatric symptoms (the most common is depression) that usually start to appear in mid-life. There is no cure and death usually results within 10 to 20 years of symptom onset, or faster in the childhood-onset form of the disease.

9 Oct 2005

Researchers reveal basis for hereditary coproporphyria

A research team led by scientists at The University of Texas Medical School at Houston has determined the structure of an enzyme that when defective causes an inherited disease that afflicts sufferers with severe abdominal pain, psychiatric symptoms, skin fragility, and light sensitivity.

9 Oct 2005