Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.
Bottom Line: The pathological characterization of the tissues revealed a severe depletion of mtDNA (mitochondrial DNA) that was most pronounced in liver, followed by a less severe, but still significant depletion in skeletal muscle and the heart.A variable defect pattern was found in liver, muscle and heart tissue as revealed by biochemical, cytochemical, immunocytochemical and in situ hybridization analysis.Their disappearance could also aggravate the mtDNA depletion and contribute to the non-homogenous defect pattern.
Affiliation: Pathologisches Institut der Ludwig-Maximilians-Universität, München, Germany. firstname.lastname@example.orgShow MeSH
Related in: MedlinePlus
Mentions: In the heart (Fig. 8) and skeletal muscle single cells/fibres were present with an accumulation of lipids and mitochondria. The mitochondria were enlarged and had irregular cristae of a tubular type. However, no defects of cytochrome-c-oxidase could be detected (Fig. 9). Succinate dehydrogenase was also normal.
Affiliation: Pathologisches Institut der Ludwig-Maximilians-Universität, München, Germany. email@example.com