Mutation News and Research

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CSHL scientist discovers how bookmarking protein triggers leukemia

Each cell inherits genes from its parent as well as epigenetic information - what amounts to an instruction manual that specifies which genes should be activated or "expressed," when and to what level.

6 Jan 2010

Toxic chemicals make us susceptible to a wide range of diseases

From the Industrial Revolution and onward, the world has become an environment that is overflowing with dangerous toxins. Mass manufacturing has resulted in thousands of chemical pollutants being released in the atmosphere, water, and soil. As well, there has been a widespread increase of chemicals being added to almost every type of food and retail product.

6 Jan 2010

Agilent Technologies, Covaris sign co-marketing agreement to streamline next-generation sequencing experiments

Agilent Technologies, Inc. (NYSE:A) and Covaris Inc. today announced a co-marketing agreement in which Covaris S2 DNA shearing technology will be marketed with the Agilent SureSelect Target Enrichment System to streamline next-generation sequencing experiments.

6 Jan 2010

Findings reveals 'limpet-like' proteins can play a key role in DNA repair

UK scientists have found that a crafty family of 'limpet-like' proteins can play a crucial role in repairing DNA damage - according to two research papers published in Nature today (Wednesday). These findings could pave the way to the design of new anti-cancer drugs which target this process.

6 Jan 2010

Perturbing DISC1 gene could help researchers treat mental illness, says study

Scientists have long eyed mutations in a gene known as DISC1 as a possible contributor to schizophrenia and mood disorders, including depression and bipolar disorder. Now, new research led by Johns Hopkins researchers suggests that perturbing this gene during prenatal periods, postnatal periods or both may have different effects in mice, leading to separate types of brain alterations and behaviors with resemblance to schizophrenia or mood disorders.

6 Jan 2010

MindUp Cancer Project integrated into HIRU

Hiru Corporation welcomes the integration of its MindUp Cancer Project into the HIRU corporation. This asset was recently acquired on a cash and stock basis as reported previously.

5 Jan 2010

Vitamin C reverses accelerated aging due to Werner's syndrome

A new research discovery published in the January 2010 print issue of the FASEB Journal suggests that treatments for disorders that cause accelerated aging, particularly Werner's syndrome, might come straight from the family medicine chest. In the research report, a team of Canadian scientists show that vitamin C stops and even reverses accelerated aging in a mouse model of Werner's syndrome, but the discovery may also be applicable to other progeroid syndromes.

5 Jan 2010

Elusive human protein outsmarted

A team of researchers is being recognized for devising a new way to study a human protein that long has evaded close scrutiny by scientists investigating its role in the communication of important genetic messages inside a cell's nucleus to workhorse molecules found elsewhere.

5 Jan 2010

Anti-inflammatory prescription drug reduces the risk of common skin cancer in humans

A widely-available anti-inflammatory prescription drug can reduce the risk of a common skin cancer in humans, according to a researcher at Stanford's School of Medicine.

5 Jan 2010

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