A mutated version of the AHNAK gene may help researchers better understand how keloid scars form, and this information may lead to better treatments for these scars.

The study, which was presented at the 2015 Triological Combined Sections Meeting in San Diego, is the first to demonstrate that an altered AHNAK gene may have a significant biological role in keloid development.

“This finding has great promise for better understanding how keloids function and offer a potential target for improved and novel treatments,” says study lead author Lamont R. Jones, MD. Vice Chair, Department of Otolaryngology-Head and Neck Surgery at Henry Ford Hospital in Detroit.

Lamont R. Jones, M.D.

Lamont R. Jones, MD

“We now have a better understanding of how this gene fits in the broader picture of the wound healing process, which may be important in preventing scars in general.”

AHNAK is a 700 kDa protein located on the cell membrane in epithelial cells and in the nucleus and cytoplasm of other cell types such as fibroblasts. AHNAK has been suspected to contribute to cell-cell adhesion or exocytosis.

Researchers investigated AHNAK as a potential biomarker in keloids through the integration of methylation and gene expression.

To do so, they examined samples of fresh keloid tissue and fresh normal tissue for AHNAK expression. Three of the five keloid samples showed a large reduction in expression as compared to the normal tissue.

In this small sample, gene expression was consistent with methylation, a process that allows the researchers to look for genetic abnormalities within tumor samples.

“Identifying AHNAK puts our translational research one step closer to moving from the bench to the bedside,” says Dr Jones in a news release.