Mutation News and Research

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Human RecQ helicases, homologous recombination and genomic instability

Two independent papers in the December 1st issue of G&D detail how human RecQ helicases regulate homologous recombination and protect genome stability.

15 Nov 2007

Human embryonic stem cells derived from preimplantation genetically diagnosed embryos

A human stem cell line derived from embryos that were identified by preimplantation genetic diagnosis (PGD) to carry the mutation for fragile X syndrome has provided an unprecedented view of early events associated with this disease.

15 Nov 2007

New explanation for how regulatory networks of genes evolved

When ancient retroviruses slipped bits of their DNA into the primate genome millions of years ago, they successfully preserved their own genetic legacy.

15 Nov 2007

Gene variants behind pancreatic stone formation

Stone formation is an important feature of chronic pancreatitis, especially tropical calcific pancreatitis (TCP), where the stones are large in size, highly irregular in shape and cause enormous tissue destruction.

14 Nov 2007

GPRC5A gene found to be a tumor-suppressor for lung cancer

The GPRC5A gene, which is under-expressed in human lung cancer cells, suppresses lung tumors in mouse models and could provide a key to attacking lung cancer in humans, researchers at The University of Texas M. D. Anderson Cancer Center report in the Nov. 21 edition of The Journal of the National Cancer Institute.

14 Nov 2007

Hope on the horizon for hereditary angioedema sufferers

Although there is currently no treatment approved by the Federal Drug Administration (FDA) for acute attacks of hereditary angioedema (HAE) - a genetic disease causing swelling of extremities, face and internal organs that can be life-threatening - hope is on the horizon according to a team of experts presenting the latest research at the Annual Meeting of the American College of Allergy, Asthma and Immunology (ACAAI) in Dallas.

14 Nov 2007

Tumor-suppressor gene for lung cancer identified

14 Nov 2007

HIV drug resistance risk in mothers reduced by tenofovir/emtricitabine with nevirapine during labor

New research from the University of Alabama at Birmingham (UAB) shows that adding a single dose of two common anti-HIV drugs can prevent HIV-positive pregnant women from developing resistance to an entire class of drugs, potentially improving future treatment options.

14 Nov 2007

Bird flu in Britain prompts culling of Christmas poultry

An outbreak of bird flu on a farm in England has prompted the culling of 5,000 turkeys, 1,000 ducks and 500 geese.

14 Nov 2007

Life-threatening gene defect related to thoracic aortic disease discovered

A research team led by scientists at The University of Texas Medical School at Houston has identified a defective gene that affects vascular smooth-muscle cells in people who suffer from hereditary thoracic aortic disease, which can kill victims with little warning in the prime of their lives.

13 Nov 2007

Abnormal immune cells may cause unprovoked idiopathic anaphylaxis

Two new clinical reports shed light on why some people suffer from recurrent episodes of idiopathic anaphylaxis--a potentially life-threatening condition of unknown cause characterized by a drop in blood pressure, fainting episodes, difficulty in breathing, and wheezing.

13 Nov 2007

Overeating alters the core mechanism of the body clock

Our body's 24-hour internal clock, or circadian clock, regulates the time we go to sleep, wake up and become hungry as well as the daily rhythms of many metabolic functions.

6 Nov 2007

Selective resequencing provides low-cost method for interpreting human genome

Cold Spring Harbor, NY Scientists at Cold Spring Harbor Laboratory (CSHL) have developed a new means of extracting and interpreting data from the human genome that is more powerful and more economical than methods currently employed.

6 Nov 2007

Li-Fraumeni syndrome found, for the first time, in Singapore

A rare hereditary disorder that strongly predisposes carriers to develop cancer at an early age has been found in an Asian female, report researchers at the American Association for Cancer Research Centennial Conference on Translational Cancer Medicine.

6 Nov 2007

New role for p53 gene in childhood cancer

Researchers have identified a new role for a cancer-prevention gene in the response to drug treatment for childhood cancer.

6 Nov 2007

Washington Post examines reaction to study tracking HIV's arrival in U.S. from Haiti

The Washington Post on Monday examined reaction to a recent study that found that HIV likely arrived in the U.S. from Haiti about a decade earlier than previously believed (Stein, Washington Post, 11/5).

5 Nov 2007

Inheriting two genetic mutations that can individually cause epilepsy may cancel each other

Inheriting two genetic mutations that can individually cause epilepsy might actually be "seizure-protective," said Baylor College of Medicine researchers in a report that appears online in the journal Nature Neuroscience.

5 Nov 2007

Family history of bipolar affects decision to have children

One in three people with a strong family history of bipolar disorder (manic depression) are reluctant to have children due to the hereditary nature of the illness and its perceived social stigma, new research from the University of New South Wales (UNSW) has found.

4 Nov 2007

Discovery of master switch that regulates blood pressure

A team of Oregon Health & Science University researchers studying a rare form of hypertension has identified the mechanism by which they believe a protein complex in the kidney operates as a master switch that regulates blood pressure, a finding that has broad implications for the treatment of more common forms of hypertension.

2 Nov 2007