Mutation News and Research

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Key details of how TRF2 protein performs crucial chromosome-protecting function

We take it for granted that our chromosomes won't stick together, yet this kind of cellular disaster would happen constantly were it not for a protein called TRF2. Now, scientists at The Scripps Research Institute (TSRI) have discovered key details of how TRF2 performs this crucial chromosome-protecting function.

7 Feb 2013

Researchers design guideline for physicians and patients on Androgen Insensitivity Syndrome

University of Granada researchers have designed a guideline for physicians and patients on the Androgen Insensitivity Syndrome (AIS), a rare disease that makes the subject develop reverse sex, which occurs when a subject looks like a woman but has male genes.

7 Feb 2013

Glimmer of hope for imatinib-resistant GIST

The monoclonal antibody SR1 can significantly inhibit gastrointestinal stromal tumor cell growth, report researchers in the Proceedings of the National Academy of Sciences.

7 Feb 2013

Migraine, epilepsy and genetics: an interview with Dr. Melodie Winawer

This work is the product of an extraordinary consortium called the Epilepsy Phenome/Genome project (EPGP). It is a consortium of 27 centres in the U.S. and internationally with several hundred physicians and staff who have worked together to enrol more than 4000 patients with epilepsy and their family members.

7 Feb 2013

New method can determine seriousness of cancer prognosis with 80% certainty

The number of incorrect cancer prognoses can be halved with computerised image analysis. In three years time, the method can be used on patients with bowel cancer, ovarian cancer and prostate cancer.

6 Feb 2013

Researchers assess complete landscape of kinome expression in cancer

When it comes to gene sequencing and personalized medicine for cancer, spotting an aberrant kinase is a home run. The proteins are relatively easy to target with drugs and plenty of kinase inhibitors already exist.

6 Feb 2013

Non-O blood type - the most important risk factor for venous thromboembolism

The non-O ABO blood type is the most important risk factor for venous thromboembolism (blood clots in veins), making up 20% of attributable risk for the condition, according to a new study in CMAJ (Canadian Medical Association Journal).

6 Feb 2013

GSTM gene mutation, air pollution can increase risk of asthma-related cockroach allergy

An allergic reaction to cockroaches is a major contributor to asthma in urban children, but new research suggests that the insects are just one part of a more complex story. Very early exposure to certain components of air pollution can increase the risk of developing a cockroach allergy by age 7 and children with a common mutation in a gene called GSTM may be especially vulnerable.

6 Feb 2013

Presenilin-1 gene plays central role in development of neuronal histamine system

Researchers at University of Helsinki, Finland, have shown in a study conducted on zebrafish, that the presenilin-1 (psen1) gene associated with Alzheimer's disease functions as a central regulator for the development of the histamine system. Histamine system is also altered in patients suffering from Alzheimer's disease.

5 Feb 2013

Scientists identify specific cellular events that appear key to lupus

A team led by scientists at The Scripps Research Institute (TSRI) has identified specific cellular events that appear key to lupus, a debilitating autoimmune disease that afflicts tens of millions of people worldwide. The findings suggest that blocking this pathway in lupus-triggering cells could be a potent weapon against the disease.

5 Feb 2013

Accumulation of passenger mutations can slow or even halt tumor growth

A typical cancer cell has thousands of mutations scattered throughout its genome and hundreds of mutated genes. However, only a handful of those genes, known as drivers, are responsible for cancerous traits such as uncontrolled growth. Cancer biologists have largely ignored the other mutations, believing they had little or no impact on cancer progression.

5 Feb 2013

Breast cancer genes modify age at menopause

Women with the BRCA1 or BRCA2 mutation begin menopause at a significantly younger median age than noncarriers, US researchers warn.

4 Feb 2013

Hope against dangerous form of acute lymphoblastic leukemia

After an intensive three-year hunt through the genome, medical researchers have pinpointed mutations that leads to drug resistance and relapse in the most common type of childhood cancer-the first time anyone has linked the disease's reemergence to specific genetic anomalies.

4 Feb 2013

Measles: an interview with Dr. Robert Perry, World Health Organization

Measles is a disease marked by fever, rash, and cold symptoms (red eyes, cough, runny nose) that results in a temporary suppression of the immune system and a drop in vitamin A levels.

4 Feb 2013

Scientists track evolution of antibiotic resistance using automated device

With the discovery of antibiotics, medicine acquired power on a scale never before possible to protect health, save lives, and reduce suffering caused by certain bacteria. But the power of antibiotics is now under siege because some virulent infections no longer respond to antibiotic drugs.

4 Feb 2013

Investigators use genome analysis to eliminate lifetime drug prescription in two children

Using genome-wide analysis, investigators at the Sainte-Justine University Hospital Research Center and the University of Montreal have potentially eliminated a lifetime drug prescription that two children with a previously unknown type of adrenal insufficiency had been receiving for 14 years.

4 Feb 2013

Study provides new insight on cancer prevention

Clear communication between cells is essential to every aspect of the body's internal function. But since cells can't talk, or send emails, how do they communicate?

4 Feb 2013

Presentation examines role of genes behind autism disorders

Autism spectrum disorders affect nearly 1 in 88 children, with symptoms ranging from mild personality traits to severe intellectual disability and seizures. Understanding the altered genetic pathways is critical for diagnosis and treatment.

4 Feb 2013

Researchers create high-resolution map of gene regulatory elements in the brain

Future research into the underlying causes of neurological disorders such as autism, epilepsy and schizophrenia, should greatly benefit from a first-of-its-kind atlas of gene-enhancers in the cerebrum (telencephalon).

2 Feb 2013

Scientists report first generation of hiPSCs from patients with maturity onset diabetes of the young

Joslin scientists report the first generation of human induced pluripotent stem cells from patients with an uncommon form of diabetes, maturity onset diabetes of the young (MODY). These cells offer a powerful resource for studying the role of genetic factors in the development of MODY and testing potential treatments.

2 Feb 2013