S1P Defects Cause a New Entity of Cataract, Alopecia, Oral Mucosal Disorder, and Psoriasis-like Syndrome

ABSTRACT: In this report, we discovered a new entity named cataract, alopecia, oral mucosal disorder and psoriasis-like (CAOP) syndrome in two unrelated and ethnically diverse patients. Furthermore, patient 1 failed to respond to regular treatment. We found that CAOP syndrome was caused by an autosomal recessive defect in the mitochondrial membrane-bound transcription factor peptidase/site-1 protease (MBTPS1, S1P). Mitochondrial abnormalities were observed in patient 1 with CAOP syndrome. Furthermore, we found that S1P is a novel mitochondrial protein that forms a trimeric complex with ETFA/ETFB. S1P enhances ETFA/ETFB flavination and maintains its stability. Patient S1P variants destabilize ETFA/ETFB, impair mitochondrial respiration, decrease fatty acid β-oxidation activity, and shift mitochondria

SUBMITTER: Dr. Fuying Chen 

PROVIDER: S-SCDT-EMM-2021-14904 | biostudies-other |

REPOSITORIES: biostudies-other