Mutation News and Research

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Researchers identify micro-RNA that regulates learning processes, Alzheimer's

Proteins are the molecular machines of the cell. They transport materials, cleave products or transmit signals - and for a long time, they have been a main focus of attention in molecular biology research. In the last two decades, however, another class of critically important molecules has emerged: small RNA molecules, including micro-RNAs. It is now well established that micro-RNAs play a key role in the regulation of cell function."A micro-RNA regulates the production of an estimated 300-400 proteins.

26 Sep 2011

Genetic testing for breast and ovarian cancer

Experts from Cancer Treatment Centers of America (CTCA) provide some clues as to who should be using these tests. They explain that women who have been diagnosed with cancer and/or people who have a strong family history of cancer can consider genetic testing. Red flags to consider are anyone in the family who developed cancer at a young age, multiple family members who developed cancer, if a person experienced bilateral cancer (cancer in both breasts), breast and ovarian cancer in the same woman, or cancer appeared where it wasn’t expected (like breast cancer in men)

26 Sep 2011

Study identifies genetic mutations that affect immune response to measles vaccination

Researchers at Mayo Clinic are hacking the genetic code that controls the human response to disease vaccination, and they are using this new cipher to answer many of the deep-seated questions that plague vaccinology, including why patients respond so differently to identical vaccines and how to minimize the side effects to vaccination.

23 Sep 2011

Longevity research till date may be riddled with flaws: Study

Research over the last decade showing that proteins called sirtuins can increase lifespan is deeply flawed, according to a new study in Nature that debunks prior claims of a direct causal link.

22 Sep 2011

Virginia G. Piper, TGen and Scottsdale Healthcare begin AP26113 Phase 1 study in NSCLC

Patients at Virginia G. Piper Cancer Center Clinical Trials are the first in the nation to participate in a clinical trial to determine the safety, tolerability and preliminary activity of an investigational drug that targets cell-signaling proteins associated with the most common form of lung cancer, as well as other forms of cancer such as lymphomas and neuroblastoma.

22 Sep 2011

Wnt signaling pathway plays an important role in early-onset dementia

No cure exists for frontotemporal dementia, which strikes between the ages of 40 and 64 and accounts for at least one in four cases of early-onset dementia. Caused by the death of cells in the front and sides of the brain, the disease can lead to dramatic changes in a patient's personality and behavior, including the loss of the ability to communicate.

22 Sep 2011

Researchers identify common genetic mutation for ALS, frontotemporal dementia

Frontotemporal dementia and amyotrophic lateral sclerosis, also known as Lou Gehrig's disease -- two fatal neurodegenerative disease with distinct but sometimes overlapping symptoms -- are triggered by a common mutation in many cases, according to researchers who say they have identified the mutated gene.

22 Sep 2011

Scientists discover new genetic mutation for amyotrophic lateral sclerosis

A team led by scientists from Johns Hopkins and the National Institutes of Health has discovered a new genetic mutation for amyotrophic lateral sclerosis (ALS) and a related disease called frontotemporal dementia (FTD) that appears to account for more than a third of all inherited cases of these diseases.

22 Sep 2011

African Americans more likely than Caucasians to develop and die from lung cancer

Lung cancer, the leading cause of cancer death in the U.S., takes a particularly heavy toll on African Americans. Despite their lower smoking rates, African Americans are more likely than Caucasians to develop and die from lung cancer.

21 Sep 2011

Converting genetic data into biomedical knowledge a true challenge for statisticians

Within a decade, a combination of advanced measurement techniques and statistics will enable scientists to develop methods to diagnose serious diseases caused by genetic defects. Ten years after that, there may be medicines available to repair these defects.

21 Sep 2011

MDC researchers determine molecular structure of dynamin

Dr. Katja F-lber and Professor Oliver Daumke, structural biologists at the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch, together with researchers from Freie Universit-t (FU) Berlin, have determined the molecular structure of dynamin, a 'wire-puller' that mediates nutrient uptake into the cell.

21 Sep 2011

Scientists discover crucial connection in skin formation

Skin is the body's armor, protecting us from disease agents, injury, excessive water loss, and cold and heat. Yet mutations in a single gene, the gene for the protein p63, cause numerous diseases and malformations of the uppermost layer of skin - the epidermis - and other tissues. In the epidermis, these range from skin cancers to dysplasias that cause cracking, bleeding, infection, and discoloration.

21 Sep 2011

Individuals without ubiquitin ligase Nedd4L more likely to develop CF

Cystic fibrosis (CF), a chronic disease that clogs the lungs and leads to life-threatening lung infections, is caused by a genetic defect in a chloride channel called cystic fibrosis transmembrane conductase regulator.

20 Sep 2011

Scientists identify oldest known DNA regulatory region

A team of scientists has discovered the oldest known DNA regulatory region, as reported in an article in the journal Proceedings of the National Academies of Sciences.

20 Sep 2011

UNC researchers develop technique that can observe cellular intricacies of CF

When researchers discovered the primary genetic defect that causes cystic fibrosis (CF) back in 1989, they opened up a new realm of research into treatment and a cure for the disease. Since then, scientists have been able to clone the defective gene and study its effects in animals. Now researchers at the University of North Carolina at Chapel Hill have developed a technique for observing the defects at work in human tissue donated by patients with CF.

20 Sep 2011

Researcher identifies genetic mutation responsible for adermatoglyphia

Like DNA, fingerprints are unique to each person or set of identical twins. That makes them a valuable identification tool for everything from crime detection to international travel. But what happens when the tips of our fingers are missing those distinctive patterns of ridges?

19 Sep 2011

NeuroVive, Selcia sign research collaboration agreement to develop new mitochondrial drugs

UK-based contract research organisation Selcia Limited and Swedish drug development company NeuroVive Pharmaceutical AB have signed a significant research collaboration agreement to develop new medicines and drug compounds targeting mitochondrial physiology and pathophysiology.

19 Sep 2011

CWRU receives NCI grant to advance treatment of gastrointestinal cancers

The National Cancer Institute has awarded $11.3 million to Case Western Reserve University School of Medicine to establish a center of excellence for research on gastrointestinal cancers.

19 Sep 2011

Landmark international study confirms common genetic contribution to mental illness

An international research consortium has confirmed that common genetic variants contribute to a person’s risk of schizophrenia and bipolar disorder. The largest study of its kind provides new molecular evidence that 11 regions have strong association with these diseases, including six regions not previously observed. The researchers also found that many of these DNA variations contribute to both diseases. The findings, reported by the Psychiatric Genome-Wide Association Study Consortium (PGC) and published online in two papers in the journal Nature Genetics, represent significant advances in the understanding the causes of these severe and often debilitating disorders.

18 Sep 2011

Researchers discover molecular-level changes in brains of women with major depressive disorder

Researchers at the University of Pittsburgh School of Medicine have discovered molecular-level changes in the brains of women with major depressive disorder that link two hypotheses of the biological mechanisms that lead to the illness. Their results, published online this week in Molecular Psychiatry, also allowed them to recreate the changes in a mouse model that could enhance future research on depression.

17 Sep 2011