Human dermal fibroblasts are used for genetic diagnosis and testing
Primary human dermal fibroblasts are extremely helpful to support research and development of drugs and devices. Material obtained from the skin biopsy can be utilized in several investigative procedures such as examination of cellular morphology, immunofluorescence staining of biochemical markers, enzymatic studies, and molecular biology. A fibroblast is a specific type of connective tissue cell that is found in skin. In genetics research, cultured fibroblasts are particularly important because they can be isolated and grown from a small biopsy from forearm skin cells. The cells can be examined for genotypes and grown and tested for disease associated phenotypes. Human dermal fibroblasts are useful to study extracellular matrix production and wound healing. They can also be used as model systems to study many aspects of cell physiology, reprogramming, and induced pluripotency. Among the various uses of a skin biopsy, the most frequent is the confirmation and testing for clinical diagnoses. More recently primary human skin fibroblasts are used to study CAS9-CRISPR mediated gene editing and knock-out. Gene therapies using lentivirus, AAV, and nanoparticles can be delivered to primary human fibroblasts.
In the specific area of inborn errors of metabolism, cell culture from skin biopsies are used for enzymatic measurements to provide a diagnosis. For example, primary fibroblasts are used for the definitive diagnosis and study of Mucopolysaccharidoses. A hallmark of these lysosomal storage diseases is the accumulation of glycosaminoglycans and deficiencies in the enzymes that process them. Many other inherited metabolic disorders can be studied using primary dermal fibroblasts. Similarly, other genetic diseases affecting the skin, muscle, connective tissue, bone, and immune system may be diagnosed and studied using skin fibroblasts. Disorders such as Parkinson’s, cancer, heart disease may be studied using primary fibroblasts or cells derived from them.
One exciting aspect of working with these cells is the ability to dedifferentiation fibroblasts to an artificial stem cell type by the induction of pluripotent cells (iPSCs). This can be accomplished by the forced expression of certain factors. The iPSCs can be then directed toward other cell lineages. The multipotent plasticity of these cells and the ability to isolate them from a consenting individual patient for autologous treatment opens many avenues for research and therapeutic development.
Primary human dermal fibroblasts may be collected with little discomfort by taking a small (1-8mm) forearm skin biopsy punch. The aseptically collected tissue is then transported in cell culture media containing serum and antibiotics by overnight courier. Once in our laboratory, BioTether Sciences can culture, study, and preserve these cells. We have the cell culture and bioanalytical expertise to support your program and advance the research and development of your therapeutic (www.BioTether.com).