Mutation News and Research

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SERPINE2 identified as novel candidate gene for COPD susceptibility

Using a combination of genetic linkage, microarray gene expression and genetic association studies, a group of Brigham and Women’s Hospital/ Harvard Medical School researchers have identified a serine protease inhibitor clade E, member 2, or SERPINE2, “as a novel candidate susceptibility gene for COPD,” according to Sorachai Srisuma

3 Apr 2005

A circadian rhythm gene discovered

A few rare people who consistently nod off early, then wake up wide-eyed much before dawn, can blame a newly-found mutant gene for their sleep troubles, Howard Hughes Medical Institute researchers announced today.

30 Mar 2005

Wolbachia genome reveals new targets to combat infectious disease

More than a billion people are at risk for infection with filarial nematodes, parasites that cause elephantiasis, African river blindness, and other debilitating diseases in more than 150 million people worldwide.

29 Mar 2005

Pcsk9 gene - new target for cholesterol-lowering drugs

Mice lacking a key protein involved in cholesterol regulation have low-density lipoprotein, or "bad" cholesterol, levels more than 50 percent lower than normal mice, and researchers suggest that inhibiting the same protein in humans could lead to new cholesterol-lowering drugs.

29 Mar 2005

Scientists out cancer cells in permanent coma

Scientists funded by Marie Curie Cancer Care and the Association for International Cancer Research have made an unexpected discovery that could point the way to a completely new approach to treating cancer.

29 Mar 2005

US Genome Project planned to beat cancer

In a project expected to cost $US1.35 billion over nine years, the United States Government's proposed "Human Cancer Genome Project", will open a new front in the battle against cancer, say US health officials.

28 Mar 2005

Mutated BRCA1 genes cause ovarian cancer indirectly

Mutated BRCA1 genes cause ovarian cancer indirectly, by interfering with the biochemical signals one ovarian cell sends to another, according to a team of researchers led by scientists at the USC/Norris Comprehensive Cancer Center and the Keck School of Medicine of the University of Southern California.

28 Mar 2005

Three different leukemias are all caused by mutations that alter a specific enzyme controlling blood cell proliferation

Identifying the genetic malfunction that causes these disorders raises the hope that researchers may be able to devise a targeted therapy, just as they have done for chronic myelogenous leukemia (CML), which is presently treated with Gleevec. The three leukemias that share a common genetic cause are polycythemia vera (PV), essential thrombocythemia (ET) and myeloid metaplasia with myelofibrosis (MMM).

28 Mar 2005

Docosahexaenoic acid may protect against the accumulation of a protein believed to be linked to Alzheimer's disease

Docosahexaenoic acid (DHA), an omega-3 fatty acid, may protect against the accumulation of a protein believed to be linked to Alzheimer's disease, according to the results of a new study published in the March 30, 2005 issue of The Journal of Neuroscience. The study used Martek DHA, which is produced from microalgae.

23 Mar 2005

Gene named ATBF1 may contribute to the development of prostate cancer

A gene named ATBF1 may contribute to the development of prostate cancer through acquired mutations and/or loss of expression, according to research at Emory University School of Medicine and its Winship Cancer Institute.

23 Mar 2005

Preventing eye disease in retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited eye disease that causes visual disability leading to blindness. Over the last 15 years, researchers have pinpointed defects in dozens of genes causing different forms of RP.

22 Mar 2005

Study suggests combination therapy could stop spread, halt growth of melanomas

Researchers at Penn State College of Medicine have identified the mechanism by which the most mutated gene in melanoma, called v599EB-Raf, aids melanoma tumor development demonstrating its importance as a therapeutic target.

22 Mar 2005

Oral contraceptives may protect against breast cancer

Women at high genetic risk of breast cancer could reduce their risk of developing the disease at an early age by taking oral contraceptives, a new study has found. The findings contradict previous studies, which suggested oral contraceptive use would increase the risk of developing breast cancer.

22 Mar 2005

Genes TEL2 and MYC cooperate with each other to promote pediatric cases of the immune system cancer B-cell lymphoma

The genes TEL2 and MYC cooperate with each other to promote pediatric cases of the immune system cancer B-cell lymphoma. This finding, from investigators at St. Jude Children's Research Hospital, is published in the current issue of Molecular Cell Biology (MCB).

22 Mar 2005

Structure of key protein in innate immune response

In a report published in the Journal of Biological Chemistry, scientists in Korea announced their elucidation of three-dimensional structure of CD14 and showed how it is perfectly suited to bind to certain bacterial products.

21 Mar 2005

New research in mice sheds light on the causes behind male infertility

For 40 percent of the estimated six million American couples battling infertility, the problem lies with the man. But help may be on the way.

21 Mar 2005

Why respiratory viral infections are often more severe in people with asthma

Lung cells from asthma sufferers fail to invoke critical anti-viral defenses when infected with the common cold virus, according to a study in the March 21 issue of The Journal of Experimental Medicine. These results could help explain why respiratory viral infections are often more severe in people with asthma and how infection can trigger asthma attacks.

21 Mar 2005

Scientists find microRNA regulates Ras cancer gene

Research in the laboratory of Assistant Professor Frank J. Slack at Yale University has identified a new way that a familiar gene is regulated in lung cancer, presenting new possibilities for diagnosis and treatment. The work is reported in March issues of the journals Cell and Developmental Cell.

21 Mar 2005

Unique variant of HIV that is resistant to multiple classes of antiretroviral drugs

Researchers have identified a patient with a unique variant of HIV that is resistant to multiple classes of antiretroviral drugs and associated with the rapid development of AIDS, reporting their findings in this week’s issue of The Lancet.

21 Mar 2005

Discovery of a single mutation responsible for a number of blood disorders

Myeloproliferative disorders form a range of haematological malignant diseases, with three main members: polycythaemia vera, essential thrombocythaemia, and idiopathic myelofi- brosis. The disorders are characterised by overactive production of blood cells and can lead to thrombosis, haemorrhage or acute myeloid leukaemia.

21 Mar 2005