gene mutations

(European College of Neuropsychopharmacology) At the 21st Congress of the ECNP 2008 in Barcelona, professor Marion Leboyer, University of Paris, France, presented the compelling neurobiological story of discovering the first autism genes.

Thereby she highlighted new findings on the role of gene mutations, their association with synapse abnormalities, and -- surprisingly -- a connection between circadian rhythms and autism risk.

These insights will nurture applied projects on the development of new therapeutic strategies.

Scientists have discovered gene mutations that are the main cause of the inherited (familial) version of the childhood cancer neuroblastoma.

In addition, the researchers found that the same mutations play a significant role in high-risk forms of non-inherited neuroblastoma, the more common form of the disease.

Because drugs are already in development that target the same gene in adult cancers, researchers are planning clinical trials in children with neuroblastoma.

Scientists discovered the underlying process in tumor formation is the same as for life itself -- evolution. This suggests a molecular "survival of the fittest" scenario plays out in every living creature as gene mutations strive for ultimate survival through cancerous tumors.

This finding improves our understanding of how evolution shapes life in all forms, while laying a foundation for new cancer drugs and treatments.

(Federation of American Societies for Experimental Biology) Scientists discovered the underlying process in tumor formation is the same as for life itself --evolution.

This suggests a molecular "survival of the fittest" scenario plays out in every living creature as gene mutations strive for ultimate survival through cancerous tumors.

This finding, appearing in the August 2008 issue of the FASEB Journal (http://www.fasebj.org), improves our understanding of how evolution shapes life in all forms, while laying a foundation for new cancer drugs and treatments.

A new study provides compelling evidence that two genes are linchpins in defining the course of immune restoration in HIV-positive individuals undergoing virus-suppressing therapy.

The findings explain why some subjects' immune systems fail to have a sustained immune comeback, despite suppression of HIV-1 replication by highly active antiretroviral therapy (HAART), while others' immune systems roar back.

A new study suggests that acute myeloid leukemia (AML) may occur in part because abnormally low levels of a particular microRNA result in the over-activity of two genes important to the disease.

The research involved 85 patients with AML and gene mutations called NPM1, seen in about one-third of adult AML cases, and FLT3.

The findings suggest new therapeutic targets for treating the disease and should improve the understanding of AML.

Animal models have been invaluable in understanding how gene mutations physically affect a complex organism.

However, as vividly illustrated in a new research study examining mice with a metabolic disease, the same mutation in the same species can produce wildly variable results.

A gene linked to living a very long life -- to 90 and beyond -- is also associated with short stature in women, according to new research.

Animal research had shown that mutations to genes involved in the IGF-I signaling pathway cause two effects: Affected animals have impaired growth but also longer life spans.

Newly discovered gene mutations somehow play a role in extending the human life span as well that of many other organisms.

Remarkably, the female children of centenarians had IGF-I plasma levels that were 35 percent higher than female controls.