Possibility of gene therapy and genome-editing therapy for type II rickets caused by vitamin D receptor deficiency

Abstract

A genetic disease is a general term for diseases that develop due to some mutations in a gene. Although it can be sometimes treated with medication, in most cases the treatment has not been established. Vitamin D-dependent rickets type II caused by an abnormality in the vitamin D receptor (VDR) gene also falls under this category, and no cure has been established for alopecia, which is one of the major symptoms of rickets type II. We are currently conducting research with the aim of gene therapy for rickets type II-dependent alopecia using a VDR-expressing adenoviral vector (VDR-adeno). In this paper, we verified the therapeutic effect of intradermal VDR-adeno administration using a rickets type II model rat after shaving hair on the back. As a result, a clear promotion of hair growth was observed in the group with VDR-adeno treatment as compared to the group without treatment. This result suggests the possibility of gene therapy for rickets type II-dependent alopecia. In the future, we would like to challenge genome editing therapy in combination with the CRISPR/Cas9 system, with the aim of establishing a permanent treatment for rickets type II.