Mutation News and Research

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Cambodia, China report cases of avian influenza H5N1

"Cambodia reported on Wednesday that another four-year-old girl has contracted avian influenza H5N1, becoming the seventh person who infected the virus in 2013," Xinhua reports.

14 Feb 2013

Link between Jagged-1 protein and bone formation

Researchers from the University of Pennsylvania School of Veterinary Medicine have discovered that a protein called Jagged-1 stimulates human stem cells to differentiate into bone-producing cells.

14 Feb 2013

CELF6 genetic mutation may underlie common behaviors seen in people with autism

Scientists at Washington University School of Medicine in St. Louis have identified a genetic mutation that may underlie common behaviors seen in some people with autism, such as difficulty communicating and resistance to change.

14 Feb 2013

TP PCR methodology may help streamline genetic testing for Huntington's

A new test may help to streamline genetic testing for Huntington Disease (HD) by generating accurate results, avoiding unnecessary additional testing, and improving turnaround time.

14 Feb 2013

Study finds abnormal production of C9RANT in patients with ALS, frontotemporal dementia

Researchers at Mayo Clinic have discovered an abnormal protein that accumulates in the brains of many patients affected with two common neurodegenerative disorders — amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease, and frontotemporal dementia.

13 Feb 2013

Abnormal TDP-43 protein causes death of astrocytes in motor neurone disease

A discovery using stem cells from a patient with motor neurone disease could help research into treatments for the condition. The study used a patient's skin cells to create motor neurons - nerve cells that control muscle activity - and the cells that support them called astrocytes.

13 Feb 2013

University of Utah geneticists engineer mice that develop clear cell sarcoma

Geneticists led by University of Utah Nobel Prize Laureate Mario R. Capecchi, Ph.D., have engineered mice that develop clear cell sarcoma (CCS), a significant step in better understanding how this rare and deadly soft tissue cancer arises. The mouse model also can potentially speed the development of drugs to target genes that must be activated for the cancer to form.

13 Feb 2013

GSK, Vanderbilt partner to develop and commercialize new therapies for severe obesity

Vanderbilt University announced today that it has signed a collaboration agreement with GlaxoSmithKline (GSK) for the discovery, development and commercialization of novel therapies for severe obesity.

13 Feb 2013

Combining synthetic and natural toxins could disarm cancer, drug-resistant bacteria

Cancer researchers from Rice University suggest that a new man-made drug that's already proven effective at killing cancer and drug-resistant bacteria could best deliver its knockout blow when used in combination with drugs made from naturally occurring toxins.

13 Feb 2013

Individualized flu immune responses revealed by high-throughput sequencing

Researchers have shown that it is possible to create personalized, individual-specific measurements of the antibody repertoire in response to influenza vaccination using high-throughput DNA sequencing technology.

11 Feb 2013

Selumetinib shows high response rate for patients with low-grade serous ovarian cancer

Low-grade serous ovarian cancer is less common and aggressive than the high-grade variety, yet exceptionally difficult to treat when frontline therapy fails.

11 Feb 2013

Excessive ERK activation underlies lymphatic defects in RASopathies

The RAS pathway is a cellular signaling pathway that regulates growth and development in humans. RASopathies are a group of diseases characterized by defects in RAS signaling. Many patients with RASopathies present with defects in the lymphatic system, which removes excess fluid from tissues, absorbs fats from the digestive system, and transports immune cells.

11 Feb 2013

Fbxl10 molecule plays a crucial role in differentiation of embryonic stem cells

A single embryonic stem cell can develop into more than 200 specialized cell types that make up our body. This maturation process is called differentiation and is tightly regulated. If the regulation is lost, specialized cells cannot develop correctly during development. In adulthood, the specialized cells may forget their identity and develop into cancer cells.

10 Feb 2013

APOBEC3B enzyme plays a key role in breast cancer

Researchers at the University of Minnesota have uncovered a human enzyme responsible for causing DNA mutations found in the majority of breast cancers. The discovery of this enzyme - called APOBEC3B - may change the way breast cancer is diagnosed and treated.

10 Feb 2013

Overexpression of alpha-synuclein can cause Parkinson's

Researchers at the University of California, San Diego School of Medicine say overexpression of a protein called alpha-synuclein appears to disrupt vital recycling processes in neurons, starting with the terminal extensions of neurons and working its way back to the cells' center, with the potential consequence of progressive degeneration and eventual cell death.

10 Feb 2013

Scientists discover recurring pattern of more than 13,000 epigenetic alterations in young tumours

Tumourigenesis is driven by genetic alterations and by changes in the epigenome, for instance by the addition of methyl groups to cytosine bases in the DNA. A deeper understanding of the interaction between the genetic and epigenetic mechanisms is critical for the selection of tumour biomarkers and for the future development of therapies. Human tumour specimens and cell lines however contain a plethora of genetic and epigenetic changes, which complicate data analysis.

10 Feb 2013

Global response to possible H5N1 flu outbreak could affect epidemic's course

"It's been a rough flu season this winter in the United States and Europe, but it could be worse. A lot worse," science writer Carl Zimmer states in National Geographic's "Phenomena: The Loom" blog.

10 Feb 2013

Drugs that target retromer pathway could help prevent or treat Parkinson's

Columbia University Medical Center (CUMC) researchers have identified a protein trafficking defect within brain cells that may underlie common non-familial forms of Parkinson's disease.

9 Feb 2013

CtBP may play a key role in aggressive forms of breast cancer

A protein associated with conditions of metabolic imbalance, such as diabetes and obesity, may play a role in the development of aggressive forms of breast cancer, according to new findings by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, and their colleagues.

9 Feb 2013

Scientists create nanoscale vehicle to battle cancer without harming healthy cells

A tiny capsule invented at a UCLA lab could go a long way toward improving cancer treatment. Devising a method for more precise and less invasive treatment of cancer tumors, a team led by researchers from the UCLA Henry Samueli School of Engineering and Applied Science has developed a degradable nanoscale shell to carry proteins to cancer cells and stunt the growth of tumors without damaging healthy cells.

9 Feb 2013