Mitochondrial DNA Enzymes Prevent Disease Mutations

Researchers at the University of Queensland have identified a mechanism in DNA that controls the inheritance of disease-causing mutations.

The results, according to Dr. Anne Hahn and Associate Professor Steven Zuryn of the Queensland Brain Institute at the University of Queensland, may offer a viable treatment approach to delay the development of age- and hereditary-related disorders.

Mitochondrial DNA is essential for cell function. But as we age it mutates, contributing to diseases like dementia, cancer, and diabetes. Our team identified 2 enzymes that regulate a chemical modification of adenine methylation or 6mA in mitochondrial DNA across various species, including humans. Removing this modification leads to uncontrolled accumulation and inheritance of mutations in the DNA.”

Dr. Anne Hahn, Queensland Brain Institute, University of Queensland

Dr. Hahn said, “Our study shows the 6mA modification controls these mutations, suggesting that enhancing levels of 6mA could slow disease progression.”

The study of epigenetics is a rapidly developing area that shows how environmental influences, including those encountered during childhood, can affect how genes are expressed.

This disproves the conventional wisdom that diseases are inexorably caused by mutations in DNA.

The discovery, according to Dr. Hahn, closes the gap between genetics and epigenetics.

It shows how this epigenetic mark guards against disease-causing mutations and ensures the continuity of healthy cells.”

Dr. Anne Hahn, Queensland Brain Institute, University of Queensland

According to Dr. Zuryn, epigenetic alteration is crucial for maintaining future generations' genomic integrity as well as for an individual's health.

Our discovery was largely performed in the model organism C. elegans, and cells grown in a laboratory. The team is now exploring whether similar mechanisms exist in humans and how they might influence disease outcomes. This research has vast implications and offers a novel perspective on genetic and epigenetic factors in health and disease.”

Steven Zuryn, Associate Professor, Queensland Brain Institute, University of Queensland