News - 10/20/2016

Congratulations to Virginia, whose paper on QIL1 mutations in patients with early onset fetal mitochondrial encephalopathy recently appeared in eLife. In this work, which was a collaboration with Manuel Schiff's lab in Paris, we found truncation mutations in QIL1 and demonstrated that cells from patients lack itochondrial cristae junctions, and loss of components of these structures. Cells and tissues from patients also have defects in complex IV activity.