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Researchers are closer to understanding how a gene known as GNAO1 causes two rare diseases that lead to seizures or involuntary movements in babies and the transformations the gene can take on.

The discovery could uncover key differences in the way it functions and stop its devastating effects.

“This work will really help us better understand these two rare conditions.”

The rogue gene, linked to epilepsy and movement disorders, is the culprit of two recently identified conditions called early infantile epileptiform encephalopathy, or EIEE17, and Neurodevelopmental Disorder with Involuntary Movements, or NEDIM. Both severely alter the lives of the children they affect.

“Our results now show us which GNAO1 mutations cause EIEE17, which is a particular form of epilepsy, and which cause movement disorders like NEDIM,” says Richard Neubig, a pharmacology and toxicology professor at Michigan State University. “This work will really help us better understand these two rare conditions.”

Children with the diseases are either unable to walk and feed themselves due to uncontrollable movements, or can’t get through a day without some form of convulsion or seizure. Some can suffer from all of these effects.

The GNAO1 gene, or G Protein Subunit Alpha O1, produces a protein that carries signals from the outside of a nerve cell to the inside. In the brain, nerves communicate by releasing chemical signals, or neurotransmitters that go to another nerve and either stimulate it or restrain it.

Researchers looked at 15 human mutations in cells of the gene and found that some of the signals it carried to the other nerves were much stronger and could cause parts of the body to move uncontrollably. These were identified as gain-of-function, or GOF mutations.

The other mutations caused the signals to become weaker—or completely absent—resulting in a lack of nerve function which could spark seizures. These were categorized as LOF, or loss-of-function mutations.

“We can now make sense of these mutations that we’re seeing in children,” Neubig says. “Our results predict that drugs that block the signals that are too strong could help in the movement disorder while drugs that make the weaker signals stronger could help these epilepsy patients.”

Up until now, scientists and physicians have struggled to understand these differences, leaving them guessing at treatment options. There are 33 known mutations of GNAO1; about half cause epilepsy and the other half cause movement disorders.

“Even though more and more GNAO1 mutations are being discovered every day, they’re still rare, less than one out of 1,000,” Neubig says. “We’re now starting to use mice that will carry the human mutations related to both diseases.”

A newer method of research called CRISPR—Clustered Regularly Interspaced Short Palindromic Repeats—will allow his team to test existing drugs in mice with different human mutations and try to identify a particular drug that can target a specific mutation, offering up better treatments.

“We’re also working to set up human studies to better understand the movement disorder that some of these children can have as well,” Neubig says.

The research appears online in Neurology. The National Institutes of Health funded the research.

Source: Michigan State University

The post One gene’s mutations cause seizures in babies appeared first on Futurity.

Widespread use of biochar made from recycled waste in farming could both enhance crop growth and reduce health care costs by clearing the air of pollutants, new research suggests.

Biochar is ground charcoal produced from waste wood, manure, or leaves. Added to soil, the porous carbon has been shown to boost crop yields, lessen the need for fertilizer, and reduce pollutants by storing nitrogen that would otherwise be released to the atmosphere.

Urban dwellers in the American Midwest and Southwest, particularly those who live close to farmland, would gain the greatest benefits in air quality and health from greater use of biochar, the researchers say.

They say that, in the United States, Will, La Salle, and Livingston counties in Illinois; San Joaquin, San Diego, Fresno, and Riverside counties in California; Weld County in Colorado; Maricopa County in Arizona; and Fort Bend County in Texas would stand to save the most in health care costs from reduced smog.

“Our model projections show health care cost savings could be on the order of millions of dollars per year for some urban counties next to farmland,” says Ghasideh Pourhashem, a postdoctoral fellow at Rice University’s Baker Institute for Public Policy. “These results are now ready to be tested by measuring changes in air pollutants from specific agricultural regions.”

“Our work shows that modest changes to farming practices can benefit the air and soil too.”

Pourhashem notes the key measurements needed are the rate of soil emission of nitric oxide (NO), which is a smog precursor, after biochar is applied to fields. Many studies have already shown that biochar reduces the emissions of a related compound, nitrous oxide, but few have measured NO.

“We know that biochar impacts the soil nitrogen cycle, and that’s how it reduces nitrous oxide,” says Caroline Masiello, a professor of earth, environmental, and planetary science. “It likely reduces NO in the same way. We think the local impact of biochar-driven NO reductions could be very important.”

NO contributes to urban smog and acid rain. NO also comes from cars and power plants, but the study focused on its emission from fertilized soils.

The team used data from three studies of NO emissions from soil in Indonesia, Zambia, Europe, and China. The data revealed a wide range of NO emission curtailment—from 0 percent to 67 percent—depending on soil type, meteorological conditions, and the chemical properties of biochar used.

Using the higher figure in their calculations, they determined that a 67 percent reduction in NO emissions in the United States could reduce annual health impacts of agricultural air pollution by up to $660 million. Savings through the reduction of airborne particulate matter—to which NO contributes—could be 10 times larger than those from ozone reduction, they wrote.

“Agriculture rarely gets considered for air pollution control strategies,” says Daniel Cohan, an associate professor of civil and environmental engineering. “Our work shows that modest changes to farming practices can benefit the air and soil too.”

The study appears in the journal Environmental Science and Technology.

The NASA Air Quality Applied Sciences Team, Rice’s Shell Center for Sustainability and the Baker Institute supported the research.

Source: Rice University

The post Using biochar on farms may cut health costs appeared first on Futurity.

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