Consequences of gene defects in periodontal ligament MSCs

Katharina Marnet, Jana Schiffmaier, Theresa Kreuzahler, Drenka Trivanovic, Stephanie Graser (AG Hypophosphatasie Experimentell), Marietta Herrmann
 

Gen defects may have a significant impact on MSC function. Here, we investigate gene defects associated with the rare diseases hypophosphatasia (HPP) and primary failure of eruption (PFE), where  mutations in in the ALPL gene  and the parathormone receptor cause various dental symptoms. To date the underlying mechanisms are poorly understood. Therefore, we aim to establish cell lines carrying patient-specific mutation applying CRISPR-Cas9 gene editing techniques. Characterization of the cells should help to develop new therapeutic strategies for both diseases.

The work on PFE is supported by DFG funding.

Publications

• Melms H, Herrmann M, Förstner K, Bharti R, Schneider D, Mentrup B, Rudert M, Schlagenhauf U, Jakob F, Graser S. Novel molecular cues for dental defects in hypophosphatasia. Exp Cell Res. 2020 Apr 22:112026. doi: 10.1016/j.yexcr.2020.112026