Foreskin-derived stem cells have therapeutic potential for the currently untreatable condition congenital muscular dystrophy (CMD), according to a proof of concept study published in the journal Stem Cell Research and Therapy.

CMD is a group of genetic conditions that usually presents at, or soon after, birth resulting in muscle weakness. There is currently no cure for these conditions, and treatment usually involves physical therapy, surgery and use of a wheelchair. Most affected patients can anticipate a prematurely shortened life span due to the onset of breathing problems and heart issues.

One form of CMD, Ullrich congenital muscular dystrophy, is caused by mutation in the COL6 group of genes, which code for the collagen VI protein subunits. Collagen VI is part of a group of proteins that are instrumental in maintaining the integrity of tissues, such as muscle. Ullrich CMD patients with mutations in the COL6 gene lack this vital protein. This shows for the first time that a possible therapy for Collagen VI CMD is to introduce stem cells making normal COL6 protein into COL6 CMD-affected muscles.

In this animal study, researchers from Thomas Jefferson University examined stem cells from the adipose layer of foreskin of newborns that had been discarded after circumcision. They found that it was possible for these stem cells to synthesize and secrete collagen VI, and that they had advantages over stem cells derived from more traditional sources. This research was funded by Cure CMD, who support research into treatments, and a future cure, for CMD.

Lead author Olga Igoucheva said: "While working in the Department of Dermatology, I had access to the skin specimens collected after newborn circumcision. My initial thought was that newborn skin should have plenty of stem cell precursors and that was the case. Another advantage, cells collected at an early age have higher regenerative potential than cells collected from adult donors."

After the stem cells were extracted and cultured, they were transplanted into mutant mice lacking the COL6A1 gene. The mice were injected with stem cells under physiological and pseudo-inflammatory conditions mimicking severe Ullrich CMD. It was found that these stem cells were taken up by the mice, displaying long-term survival and secretion of the collagen VI protein missing in mutant mice.

Olga Igoucheva said: "We believe that this research opens up new opportunities for replacing missing proteins that lead to COL6 CMD. Stem cells can be used as protein factories rather than the traditional approach of using stem cells to make new muscle cells. Using human adipose-derived stem cells - a readily available commodity - opens up a potential new treatment paradigm for CMD."