Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.

ABSTRACT: Mitochondria are involved in many cellular processes and their main role is cellular energy production. They constantly undergo fission and fusion, and these counteracting processes are under strict balance. The cytosolic dynamin-related protein 1, Drp1, or dynamin-1-like protein (DNM1L) mediates mitochondrial and peroxisomal division. Defects in the DNM1L gene result in a complex neurodevelopmental disorder with heterogeneous symptoms affecting multiple organ systems. Currently there is no curative treatment available for this condition. We have previously described a patient with a de novo heterozygous c.1084G>A (p.G362S) DNM1L mutation and studied the effects of a small molecule, bezafibrate, on mitochondrial functions in this patient's fibroblasts compared to controls. Bezafibrate norm

SUBMITTER: Douiev L 

PROVIDER: S-EPMC7072316 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature