Mutation News and Research

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Scientists stop age-related decline in an entire organ

As people age, their cells become less efficient at getting rid of damaged protein - resulting in a buildup of toxic material that is especially pronounced in Alzheimer's, Parkinson's disease, and other neurodegenerative disorders.

10 Aug 2008

COMT gene variation affects fear processing, anxiety

Inborn differences may help explain why trauma gives some people bad memories and others the nightmare of post-traumatic stress. Scientists in Germany and the United States have reported evidence linking genes to anxious behavior. The findings appear in the August issue of Behavioral Neuroscience, published by the American Psychological Association.

10 Aug 2008

Scientists discover link between DNA copy number changes and cancer risk

Scientists at The Hospital for Sick Children (SickKids) have discovered a link between a newly discovered form of inherited genetic alteration, termed DNA copy number variation (CNV), and cancer susceptibility.

4 Aug 2008

Anti-reflux surgery - research may lead to changes in treatment recommendations

Researchers at Wake Forest University Baptist Medical Center have found that the reflux and swallowing problems that are common symptoms in patients with Rett syndrome and other neurological impairments, may be caused by a different mechanism than they are in healthy individuals. The finding leaves researchers to wonder if these patients truly benefit from anti-reflux surgery commonly performed in these children.

4 Aug 2008

Survival of the fittest: even cancer cells follow the laws of evolution

Scientists from The Institute of Advanced Studies at Princeton and the University of California discovered that the underlying process in tumor formation is the same as for life itself-evolution.

3 Aug 2008

Genetic defect in skin cells leads to neurodermatitis, hay fever and asthma

New knowledge points to the fact that a genetically induced lack of filaggrin, a key protein of the skin barrier, plays a decisive role in the origin of allergies.

3 Aug 2008

Inherited form of hearing loss stems from gene mutation

Pat Phalin learned she had hearing loss at 30, when she volunteered to give hearing tests at her local school. The pupils heard sounds she could not hear.

31 Jul 2008

Rresearchers explain how previously ignored parts of HIV genome play key role in drug resistance

One of the major reasons that treatment for HIV/AIDS often doesn't work as well as it should is resistance to the drugs involved. Now, scientists at McGill University have revealed how mutations hidden in previously ignored parts of the HIV genome play an important role in the development of drug resistance in AIDS patients. Their study will be published Aug. 8 in the Journal of Biological Chemistry.

31 Jul 2008

Warfarin may prevent liver failure in hepatitis C

The drug warfarin may help prevent liver failure in thousands of people with Hepatitis C, according to new research.

31 Jul 2008

Unusual chromosomal changes increase the risk of schizophrenia

People with schizophrenia have an increased number of unusual chromosomal changes, particularly structural changes that have the potential to alter the function of the genes. These results were published today in the scientific journal Nature.

31 Jul 2008

Sleep gene - search is on!

While scientists and physicians know what happens if you don't get six to eight hours of shut-eye a night, investigators have long been puzzled about what controls the actual need for sleep.

29 Jul 2008

Cell mechanism discovery may lead to new treatments for cystic fibrosis, other inherited diseases

Researchers in Japan and Canada have discovered a key component of the quality control mechanism that operates inside human cells - sometimes too well. The breakthrough has significant implications for the development of new treatments for cystic fibrosis (CF) and some other hereditary diseases, the researchers say. Their results were published July 25 in the journal Science.

29 Jul 2008

Genome sequencing study reveals new genetic typhoid fever signatures

For the first time, next-generation DNA sequencing technologies have been turned on typhoid fever - a disease that kills 600,000 people each year. The results will help to improve diagnosis, tracking of disease spread and could help to design new strategies for vaccination.

27 Jul 2008

Column discusses HIV/AIDS risks for black women

If the popular television series "Sex and the City" "chronicl[ed] the sexually liberated adventures of four black women" instead of white women, "one of the lead characters could credibly have tested positive for" HIV, Johnathon Briggs, director of communications at the AIDS Foundation of Chicago, writes in a Chicago Tribune opinion piece.

23 Jul 2008

No doubt: sun causes melanomas

A leading University of Sydney researcher writes in the prestigious British Medical Journal today that claims that the sun is not the key cause of melanomas are false.

22 Jul 2008

Is staying out of the sun causing us more harm than good?

We are continuously bombarded with messages about the dangers of too much sun and the increased risk of melanoma (the less common and deadliest form of skin cancer), but are these dangers real, or is staying out of the sun causing us more harm than good?

22 Jul 2008

New imaging system from MIT may help understand origins of cancer

MIT biological engineers have developed a new imaging system that allows them to see cells that have undergone a specific mutation.

21 Jul 2008

Suspect protein HMGB1 found to promote DNA repair, prevent cancer

An abundant chromosomal protein that binds to damaged DNA prevents cancer development by enhancing DNA repair, researchers at The University of Texas M. D. Anderson Cancer Center report online this week in the Proceedings of the National Academies of Science.

21 Jul 2008

Viral recombination another way HIV fools the immune system

When individuals infected with HIV become infected with a second strain of the virus, the two viral strains can exchange genetic information, creating a third, recombinant strain of the virus. It is known that the presence of multiple viral strains, called superinfection, frequently leads to a loss of immune control of viral levels.

21 Jul 2008