Associate Professor of Biochemistry Michael Petris and his team of researchers made a discovery that helps to explain the rare and often fatal genetic disorder Menkes disease.

Menkes disease is a genetic disorder that affects the body’s ability to properly absorb the nutrient copper from foods. After three years of research, Petris and his team of researchers were able to identify the ATP7A gene’s importance in the dietary absorption of copper.

“Studying the function of the ATP7A gene is critical to understanding the disease,” Petris said in an email.

The ATP7A gene provides necessary instructions for regulating copper levels in the body, by transporting dietary copper throughout the body, Petris said. Human beings need this gene to survive, but children can have Menkes disease when the gene is mutated or missing.

Petris and his team were able to modify mice so that they were missing the ATP7A gene in certain areas of the body, specifically in the intestinal track where copper absorption takes place.

“These findings helps us to understand where in the body the function of this gene is vital and how the loss of the gene in certain tissues can give rise to Menkes disease,” Petris said in a news release.

Petris said he and his team found that the mice that were missing the ATP7A gene were unable to fully absorb copper from their food. He said the mice also displayed symptoms that mimicked symptoms of Menkes disease in children.

“We would love to ultimately develop compounds that prolong the lives and alleviate the symptoms of children with Menkes disease,” Petris said in an email.

Petris said he hopes to do this by studying Menkes disease using cultured cells from patients.

Currently, the disease often leads to seizures, neurodegeneration, stunted growth, impaired movement and death, the release stated. Many people who carry the disease are born prematurely and typically do not live past the age of three.

According to the release, many children are not originally screened for Menkes disease since only one in 100,000 children are born with the genetic disorder. Screenings are also not regular because the disease comes up randomly through families, and usually when symptoms are noticed, it is too late for treatment.

There are very few treatment options now for children with Menkes, but Petris said his team’s study provides new models to understand the disease and create new treatments.

Petris’ lab also concluded that the ATP7A gene product is important for exporting certain anticancer drugs.

They plan on testing whether blocking the ATP7A function might enhance tumor killing by forcing tumor cells to accumulate higher levels of these cancer drugs, Petris said.

Petris said he also wants to continue to look into Menkes disease.

“We want to continue to explore the underlying biology of Menkes disease to determine where we should focus our research efforts in the future,” Petris said in the release. “If we know which organs or tissues are most responsible for transporting copper throughout the body, we can focus on making sure the gene is expressed in those areas. This disease is ideal for gene therapy down the road.”