Warren symposium follows legacy of geneticist giant

If we want to understand how the brain creates memories, and how genetic disorders distort the brain’s machinery, then the fragile X gene is an ideal place to start. That’s why the Stephen T. Warren Memorial Symposium, taking place November 28-29 at Emory, will be a significant event for those interested in neuroscience and genetics. Stephen T. Warren, 1953-2021 Warren, the founding chair of Emory’s Department of Human Genetics, led an international team that discovered Read more

Mutations in V-ATPase proton pump implicated in epilepsy syndrome

Why and how disrupting V-ATPase function leads to epilepsy, researchers are just starting to figure Read more

Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more

ataxia-telangiectasia

Nox4 inhibitor expands its reach to A-T

Emory dermatologist Jack Arbiser has been investigating (and recently patented) inhibitors of the enzyme Nox4 as potential anti-cancer drugs.

Nox4 has emerged as a potential therapeutic target in ataxia-telangiectasia, a rare multifaceted genetic disorder that leads to neurological problems, a weakened immune system and an increased risk of cancer. Ataxia-telangiectasia (or A-T) is caused by a defect in ATM, a sensor responsible for managing cells’ responses to DNA damage and other kinds of stress.

In a February PNAS paper, researchers at the National Cancer Institute led by William Bonner report that a Nox4 inhibitor can dial back oxidative stress and DNA damage in ataxia-telangiectasia cells, and can reduce cancer rates in a mouse model of the disease. Nox4 was activated in cells and tissue samples obtained from A-T patients.

The Nox4 inhibitor the NCI team used, fulvene-5, was originally identified by Arbiser in a 2009 Journal of Clinical Investigation paper as a possible treatment for hemangiomas, a common tumor in infants that emerges from blood vessels.

David Lambeth, an expert on the NADPH oxidase family of enzymes, and his team recently described Nox4 as an “hydrogen peroxide-generating oxygen sensor.”

 

Posted on by Quinn Eastman in Cancer Leave a comment