Mutation News and Research

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Research may point to more effective therapeutic targets for prion diseases

Scientists from The Scripps Research Institute have determined for the first time that prions, bits of infectious protein devoid of DNA or RNA that can cause fatal neurodegenerative disease, are capable of Darwinian evolution.

4 Jan 2010

UI cell membrane protein study may lead to new methods of tracking metastasizing cancer cells

With the discovery of a new type of chemical modification on an important muscle protein, a University of Iowa study improves understanding of certain muscular dystrophies and could potentially lead to new treatments for the conditions.

4 Jan 2010

US-German team studies genome mutations

"While the long term effects of genome mutations are quite well understood, we did not know how often new mutations arise in the first place," said Detlef Weigel, director at the Max Planck Institute in Germany. It is routine today to compare the genomes of related animal or plant species.

3 Jan 2010

Presence of Streptococcus pneumoniae could predict risk of severe disease in H1N1 pandemic influenza

The presence of the Streptococcus pneumoniae in samples that can be easily obtained in clinics and emergency rooms may predict risk of severe disease in H1N1 pandemic influenza.

31 Dec 2009

Gene mutation that decreases flesh-eating disease discovered by scientists

Scientists at The Methodist Hospital Research Institute in Houston recently discovered a simple gene mutation that decreases the chance people will get a flesh-eating disease called necrotizing fasciitis. Further, they proved that inactivating this section of the gene lessens the devastating disease in humans.

30 Dec 2009

NFXF applauds the Congress and President for including Fragile X Syndrome for research funding

The National Fragile X Foundation applauds the United States Congress and President Barack Obama for including Fragile X Syndrome for the first time ever within a select group of conditions eligible for research funding from the U.S. Department of Defense.

30 Dec 2009

DMET genotyping platform screens for 1256 genetic variations in 170 genes

It's the ultimate goal in the treatment of cancer: tailoring a person's therapy based on his or her genetic makeup. While a lofty goal, scientists are steadily moving forward, rapidly exploiting new technologies. Researchers at Georgetown Lombardi Comprehensive Cancer Center report a significant advance in this field of research using a new chip that looks for hundreds of mutations in dozen of genes.

29 Dec 2009

TSC proteins regulate Notch activity

Two independent teams of researchers have identified a role for enhanced activation of the signaling protein Notch in tumors characterized by inactivation of either the TSC1 or the TSC2 protein. As indicated by Warren Pear, at the University of Pennsylvania, Philadelphia, in an accompanying commentary, these data provide a rationale for testing whether Notch inhibitors are of benefit to those with TSC-associated tumors.

29 Dec 2009

Defects in protein-secretion machinery linked to neural tube closure

Spinal cord disorders like spina bifida arise during early development when future spinal cord cells growing in a flat layer fail to roll up into a tube. In the Dec. 6 issue of Nature Cell Biology, researchers from the Johns Hopkins University School of Medicine team with colleagues at the University of California, Berkeley to report a never-before known link between protein transport and mouse spinal cord development, a discovery that opens new doors for research on all spinal defects.

29 Dec 2009

Research suggests common mechanism is associated with different human diseases

Inherited mutations in voltage-gated sodium channels (Navs) are associated with many different human diseases, including genetic forms of epilepsy and chronic pain. Theodore Cummins and colleagues, at Indiana University School of Medicine, Indianapolis, have now determined the functional consequence of three such mutations.

29 Dec 2009

CtIP protein plays a critical role in DNA repair

La Jolla, CA-In order to preserve our DNA, cells have developed an intricate system for monitoring and repairing DNA damage. Yet precisely how the initial damage signal is converted into a repair response remains unclear. Researchers at the Salk Institute for Biological Studies have now solved a crucial piece of the complex puzzle.

28 Dec 2009

Study suggests Fanconi Anemia and Bloom's Syndrome proteins may act in common DNA repair pathway

A new study establishes a molecular link that bridges two rare inherited disorders and explains why these diseases result in genetic instability. The research, published by Cell Press in the December 24th issue of the journal Molecular Cell, may lead to a better understanding of the complex mechanisms that enable cells to repair damaged DNA.

28 Dec 2009

Disinfectants can promote growth of antibiotic-resistant bacteria

Using disinfectants could cause bacteria to become resistant to antibiotics as well as the disinfectant itself, according to research published in the January issue of Microbiology.

28 Dec 2009

Test tube experiments show slight changes in protein chemistry can eliminate Huntington's disease in mice

In Huntington's disease, a mutated protein in the body becomes toxic to brain cells. Recent studies have demonstrated that a small region adjacent to the mutated segment plays a major role in the toxicity. Two new studies supported by the National Institutes of Health show that very slight changes to this region can eliminate signs of Huntington's disease in mice.

28 Dec 2009

Discovery of protein transport promotes new research on spinal defects

27 Dec 2009

EGCg in green tea inhibits flu infection

Joint research conducted by the Central Research Institute of ITO EN, Ltd. and Professor Takashi Suzuki of the School of Pharmaceutical Sciences, University of Shizuoka, showed that epigallocatechin gallate (EGCg), a kind of catechin contained in green tea, had an inhibitory effect against three types of influenza viruses, including the swine-origin H1N1 virus that caused pandemic flu in 2009, and that its effect did not depend on the type of virus. These findings once again suggest that green tea is effective in preventing flu.

24 Dec 2009

Key molecular switch linked to HD identified

Scientists have identified a key molecular switch that may drive the onset of Huntington's disease (HD), an incurable neurodegenerative disorder that leads to severe disruptions in muscle coordination and cognitive function. The research, published by Cell Press in the December 24 issue of the journal Neuron, enhances the understanding of HD pathogenesis and may direct new strategies for treating this devastating brain disease.

24 Dec 2009

Potential new therapeutic option for prevention of PD-associated neuropathology

Scientists have identified a synergistic interaction that disrupts normal intracellular transport mechanisms and leads to the accumulation of neuron-damaging clumps of protein associated with Parkinson's disease (PD), a neurodegenerative disorder that is characterized by a specific loss of neurons in the midbrain and brainstem. The research, published by Cell Press in the December 24 issue of the journal Neuron, identifies a new potential therapeutic option for preventing PD-associated neuropathology.

24 Dec 2009

New compound may halt drug-resistant lung cancer

The ability to make, test, and map the atomic structure of new anti-cancer agents has enabled a team of Dana-Farber Cancer Institute scientists to discover a compound capable of halting a common type of drug-resistant lung cancer.

24 Dec 2009

Synta Pharmaceuticals initiates STA-9090 Phase 2 clinical trial for GIST

Synta Pharmaceuticals Corp., a biopharmaceutical company focused on discovering, developing, and commercializing small molecule drugs to treat severe medical conditions, today announced that it is initiating a Phase 2 clinical study of STA-9090 in patients with advanced gastrointestinal stromal tumors (GIST). This is the sixth clinical study of STA-9090, a potent, synthetic, small molecule Hsp90 inhibitor with a novel chemical structure.

23 Dec 2009