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Discovery of Keloid Gene May Lead To New Treatments

Researchers in Detroit at the Henry Ford Hospital believe they have discovered a previously unidentified gene responsible for keloid scarring. This discovery may hold the key to knowing how keloids form and more effective treatment options for patients.

Keloid scars are more pronounced than typical scarring and are raised, firm and often tender. Most often occurring on the chest, shoulders, upper arms and ear lobes (particularly after piercing) they do not naturally subside and will extend beyond the original wound margins.

Current treatment options include cortisone injections, pressure dressings, silicone gels, surgery, cryosurgery (freezing), laser treatment, and radiation therapy. Relief is often temporary, with keloids reoccurring in patients greater than half the time.

“Much of the uncertainty surrounding keloids is rooted in there being no known cause for their development,” says study lead author Lamont R. Jones, M.D., vice chair, Department of Otolaryngology-Head and Neck Surgery at Henry Ford. “But it is believed that keloids have a genetic component given the correlation with family history, prevalence in twins, and its predisposition in darker skin.”

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.

For their study, Dr. Jones and his colleges investigated AHNAK as a potential biomarker in keloids through the integration of methylation and gene expression. To do so, the Henry Ford team 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.

– Adapted from the original press release by John Notabartolo, MPAS, PA-C, SDPA Media Relations Chair

By: John V. Notabartolo. MPAS, PA-C; Chair, Media Relations Committee; SDPA Diplomate, Past President


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