Drug screening identifies tazarotene and bexarotene as therapeutic agents in Multiple Sulfatase Deficiency

ABSTRACT: Multiple Sulfatase Deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine-generating enzyme (FGE). FGE is essential for the posttranslational activation of cellular sulfatases. MSD patients display reduced sulfatase activities and clinical signs of single sulfatase disorders in a unique combination. Up to date therapeutic options for MSD are mostly palliative. We performed a screen of FDA-approved drugs using immortalised MSD patient fibroblasts. Recovery of arylsulfatase A activity served as the primary readout. Subsequent analysis confirmed that treatment of MSD fibroblasts with tazarotene and bexarotene led to a correction of MSD pathophysiology. Upon treatment, sulfatase activities increased in a dose- and time-

SUBMITTER: Dr. Lars Schlotawa 

PROVIDER: S-SCDT-10_15252-EMMM_202114837 | biostudies-other |

REPOSITORIES: biostudies-other