Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.

ABSTRACT: Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment is supportive, thus the development of new models for the study of Pearson syndrome and new therapy strategies is essential. In this work, we report three different cell models carrying an SLMSD: fibroblasts, transmitochondrial cybrids and induced pluripotent stem cells (iPSCs). All studied models exhibited an aberrant mitochondrial ultrastructure and defective oxidative phosphorylation system function, showing a decrease in different parameters, such as mitochondrial ATP, respiratory complex IV activity and quantity or oxygen consumption. Desp

SUBMITTER: Hernandez-Ainsa C 

PROVIDER: S-EPMC8906170 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature