Mutation News and Research

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Researchers shed new light on genetics of Parkinson's

A new study by Narendra et al. suggests that Parkin, the product of the Parkinson's disease-related gene Park2, prompts neuronal survival by clearing the cell of its damaged mitochondria.

24 Nov 2008

New hope for lung disease pulmonary alveolar proteinosis

A tale of two sisters has helped researchers solve a medical mystery and discover a familial genetic mutation that causes an inherited form of the lung disease Pulmonary Alveolar Proteinosis (PAP).

24 Nov 2008

Major discovery in the control of bad cholesterol

A study performed by the team of Dr. Nabil G. Seidah, Director of the Biochemical Neuroendocrinology Research Unit at the IRCM, shows for the very first time that the degradation by PCSK9 of the LDLR receptor, which is responsible for removing the bad cholesterol (LDL-cholesterol) from the bloodstream, may be inhibited by a third protein, annexin A2.

24 Nov 2008

Does hormone treatment predispose patients to breast cancer?

Breast cancer, the leading cause of death among women in France, is the most commonly occurring cancer in women.

21 Nov 2008

Bipolar disorder genes, pathways identified

Neuroscientists at the Indiana University School of Medicine have created the first comprehensive map of genes likely to be involved in bipolar disorder, according to research published online Nov. 21 in the American Journal of Medical Genetics.

21 Nov 2008

Researchers reveal a new aspect of tumor development

The DNA in our cells is constantly under assault from oxygen, the sun's radiation and environmental stresses.

20 Nov 2008

Gefitinib just as effective as chemotherapy for lung cancer

Gefitinib, also known as Iressa, the once-promising targeted therapy for the treatment of non-small cell lung cancer, has proven as effective as chemotherapy as a second-line therapy for the disease with far fewer side effects, according to an international Phase III clinical trial, led by researchers at The University of Texas M. D. Anderson Cancer Center.

20 Nov 2008

Common cold virus originated in birds

A virus that causes cold-like symptoms in humans originated in birds and may have crossed the species barrier around 200 years ago, according to an article published in the December issue of the Journal of General Virology.

20 Nov 2008

Scientists find DNA repair 'scissors' after 18 year hunt

Cancer Research UK scientists have identified a long sought after enzyme that plays a critical role in a DNA repair pathway linked with inheritable breast and ovarian cancer, reveals research published in Nature.

19 Nov 2008

Study to examine early, inherited form of Alzheimer's disease

The adult children of people diagnosed with inherited Alzheimer's disease are the focus of a new study to better understand the biology of the disease.

19 Nov 2008

Link found between cryptorchidism and genetic mutations

A small percentage of males born with cryptorchidism (failure of one or both testicles to descend into the scrotum), the most frequent congenital birth defect in male children, are more likely to have genetic mutations, including for a syndrome that is a common genetic cause of infertility, according to a study in the November 19 issue of JAMA .

18 Nov 2008

Neuralstem enters stem cell collaboration for Huntington's disease in Germany

Neuralstem, Inc. announced today that it has entered into a collaboration with Professor Guido Nikkah Ph.D, of Albert-Ludwigs-University in Freiburg, Germany, to advance development of Neuralstem's human neural stem cell therapies.

18 Nov 2008

Discovery of new gene linked to epilepsy

A University of Iowa-led international research team has found a new gene associated with the brain disorder epilepsy.

18 Nov 2008

Discovery of 13 new tumor-suppressor genes in liver cancer

Over the years, hunting for cancer-related genes and understanding how they work has been an important, although time-consuming, exercise.

18 Nov 2008

Kynurenic acid in brain shows potential as schizophrenia target

New research has traced elevated levels of a specific compound in the brain to problem-solving deficits in patients with schizophrenia.

18 Nov 2008

Discovery of gene associated with epilepsy

A University of Iowa-led international research team has found a new gene associated with the brain disorder epilepsy.

18 Nov 2008

Why only some former smokers develop lung cancer

Canadian researchers are trying to answer why some smokers develop lung cancer while others remain disease free, despite similar lifestyle changes.

17 Nov 2008

A link found between nicotine addiction and autism

Scientists have identified a relationship between two proteins in the brain that has links to both nicotine addiction and autism.

17 Nov 2008

New gene-silencing pathway found in plants

Biologists at Washington University in St. Louis have made major headway in explaining a mechanism by which plant cells silence potentially harmful genes.

17 Nov 2008

Early detection program for men with a high prostate cancer risk

Men with a family history of prostate cancer and African-American men are particularly susceptible to the disease, with a twofold to sevenfold increased risk. Assessing risk in these populations has been difficult.

17 Nov 2008