Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome

Abstract

Electron micrographs of fibroblasts of an HHH-syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting in unusual structures.