Mutation News and Research

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Study to examine possible link between mitochondrial DNA and ovarian cancer

Ovarian cancer is a deadly disease. With no overt symptoms and no screening tests to catch it early, ovarian cancer is often detected at stage 3 or later. By then, it can be very aggressive and may have spread beyond the ovaries into other organs. Many women eventually succumb to it; the five-year survival rate for a stage 3 ovarian cancer diagnosis is only 34 percent.

24 Oct 2012

Genzyme, Alnylam partner to develop and commercialize RNAi therapeutics against ATTR

Alnylam Pharmaceuticals, Inc. and Genzyme, a Sanofi company, announced today that they have formed an exclusive alliance to develop and commercialize RNAi therapeutics targeting transthyretin (TTR) for the treatment of transthyretin-mediated amyloidosis (ATTR) in Japan and other Asia-Pacific countries.

23 Oct 2012

UCI, Brown work advances quest for novel treatments for inherited disorder

UC Irvine and Brown University researchers have created a new fruit fly model of inherited epilepsy that's providing insights into the mechanisms underlying temperature-dependent seizures while establishing a platform from which to develop therapies for these disorders.

20 Oct 2012

Researchers identify how mosquito's immune system attacks specific infections

Researchers at the Johns Hopkins Bloomberg School of Public Health have determined a new mechanism by which the mosquitoes' immune system can respond with specificity to infections with various pathogens, including the parasite that causes malaria in humans, using one single gene.

20 Oct 2012

Researchers identify crucial stage in the lifecycle of simple viruses

Researchers at the University of Leeds have identified a crucial stage in the lifecycle of simple viruses like polio and the common cold that could open a new front in the war on viral disease.

20 Oct 2012

Stem cell study may help to unravel how genetic mutation leads to Parkinson's symptoms

By reprogramming skin cells from Parkinson's disease patients with a known genetic mutation, researchers at the Salk Institute for Biological Studies have identified damage to neural stem cells as a powerful player in the disease.

20 Oct 2012

New book focuses on Wnt signaling

Wnt proteins are signaling molecules that play critical roles during embryonic development and in the regeneration of adult tissues. They bind to Frizzled and LRP family receptors on the cell surface, triggering a series of events that cause beta-catenin to enter the nucleus and activate transcription factors that control cell fate and cell proliferation. Mutations in components of the Wnt pathway lead to developmental defects and are common in cancer.

19 Oct 2012

Universal tumor testing superior to selective strategy in identifying Lynch syndrome among CRC patients

In a comparison of strategies to identify individuals with Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), caused by mutations in certain genes (DNA mismatch repair [MMR] genes), universal tumor MMR testing among certain CRC patients had a greater sensitivity for the identification of Lynch syndrome compared with multiple alternative strategies, although the diagnostic improvement was modest, according to a study in the October 17 issue of JAMA.

17 Oct 2012

Study finds novel function of non-protein coding RNA

While studying Parkinson's disease, an international research group made a discovery which can improve industrial protein synthesis for therapeutic use. They managed to understand a novel function of non-protein coding RNA: the protein synthesis activity of coding genes can be enhanced by the activity of the non-coding one called "antisense."

17 Oct 2012

BioLineRx completes pre-clinical development of BL-8020 for HCV

BioLineRx, a biopharmaceutical development company, announced today that it has successfully completed the pre-clinical development of BL-8020, an orally available, interferon-free treatment for the Hepatitis C virus (HCV), and plans to commence a Phase I/II safety and efficacy study for BL-8020 in Europe during the first quarter of 2013.

17 Oct 2012

Brachyury variation may increase risk of chordoma

A genetic variation possessed by 40% of the population is associated with a five-fold increase in risk for developing chordoma, a cancer that strikes the bones of the skull and spine.

17 Oct 2012

LRRK2 inhibitors may provide neuroprotection for patients with Parkinson's

For decades, patients with Parkinson's disease (PD) have had the same experience. Their hands start to shake uncontrollably, their limbs become rigid and they lose their balance. Years before those movement problems set in, many begin struggling with fainting, incontinence, sexual dysfunction, anxiety and depression. Many patients are still treated with a 42-year-old drug called L-DOPA, which temporarily staves off symptoms but can itself cause heart arrhythmias, stomach bleeding and hallucinations.

16 Oct 2012

Maryland scientists create stem cell model for Gaucher disease

A new method of using adult stem cells as a model for the hereditary condition Gaucher disease could help accelerate the discovery of new, more effective therapies for this and other conditions such as Parkinson's, according to new research from the University of Maryland School of Medicine.

16 Oct 2012

Accumulation of small genetic variations could increase risk of ASD

An increased risk of autism spectrum disorders (ASD) could result from an accumulation of many small, common genetic variations rather than large-effect, rare changes in the genetic code, according to a multicenter team led by researchers at the University of Pittsburgh School of Medicine.

16 Oct 2012

Cannabis and the endocannabinoid system: an interview with Dr Leonora Long

Cannabis has both physical and behavioural effects. People using cannabis can experience feelings of euphoria (well-being), hunger, sleepiness, problems with motor coordination, and sometimes feelings of anxiety and paranoia.

15 Oct 2012

Scientists resolve new molecular circuit controlling cellular metabolism

Cancer, diabetes, and excess body weight have one thing in common: they alter cellular metabolism. Scientists from the Max Planck Institute of Immunobiology and Epigenetics in Freiburg and the Medical University of Vienna together with an international research team have jointly resolved a new molecular circuit controlling cellular metabolism.

15 Oct 2012

Common genetic polymorphisms can increase risk of autism spectrum disorders

The causes of autism and autism spectrum disorder (ASD) are complex, and contain elements of both nature (genes) and the environment. New research published in BioMed Central's open access journal Molecular Autism shows that common genetic polymorphisms (genetic variation) can add up to an increased risk of ASD.

15 Oct 2012

Brown University, UCI researchers create Drosophila fruit fly model of epilepsy

In a newly reported set of experiments that show the value of a particularly precise but difficult genetic engineering technique, researchers at Brown University and the University of California-Irvine have created a Drosophila fruit fly model of epilepsy to discern the mechanism by which temperature-dependent seizures happen.

12 Oct 2012

Novel method can determine how ready acute myeloid leukemia cells are to die

Researchers at Dana-Farber Cancer Institute have developed a novel method for determining how ready acute myeloid leukemia (AML) cells are to die, a discovery that may help cancer specialists to choose treatments option more effectively for their patients who have AML.

12 Oct 2012

Two CUMC studies provide new insights into spinal muscular atrophy

A study by scientists from the Motor Neuron Center at Columbia University Medical Center (CUMC) suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from motor circuit dysfunction, not motor neuron or muscle cell dysfunction, as is commonly thought.

12 Oct 2012