ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

Dolly Prabhu; Amy C Goldstein; Riyad El-Khoury; Malgorzata Rak; Lia Edmunds; Pierre Rustin; Jerry Vockley; Manuel Schiff

doi:10.1016/j.ymgmr.2015.03.005

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

Mol Genet Metab Rep. 2015 Jun 1:3:43-46. doi: 10.1016/j.ymgmr.2015.03.005.

Authors

Dolly Prabhu¹, Amy C Goldstein², Riyad El-Khoury³, Malgorzata Rak⁴, Lia Edmunds¹, Pierre Rustin⁴, Jerry Vockley⁵, Manuel Schiff⁶

Affiliations

¹ Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
² Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
³ Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France ; American University of Beirut Medical Center, Department of pathology and laboratory medicine, Cairo street, Hamra, Beirut, Lebanon.
⁴ Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
⁵ Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA ; Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, PA, USA.
⁶ Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France ; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.

Abstract

Adenine nucleotide translocase 2 (ANT2) transports glycolytic ATP across the inner mitochondrial membrane. Patients with ANT2 deletion were recently reported. We aimed at characterizing mitochondrial functions in ANT2-defective fibroblasts. In spite of ANT2 expression in fibroblasts, we observed no difference between ANT2-defective and control fibroblasts for mitochondrial respiration, respiratory chain activities, mitochondrial membrane potential and intracellular ATP levels. This indicates that ANT2 insufficiency does not alter fibroblasts basal mitochondrial bioenergetics.

Grants and funding

R01 DK078775/DK/NIDDK NIH HHS/United States