A5071410578- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Genetic Neurodegenerative Diseases
Karolinska Institutet
2021
Mitochondrial transcription factor A (TFAM) is compacting mitochondrial DNA (dmtDNA) into nucleoids and directly controls mtDNA copy number. Here, we show that the TFAM-to-mtDNA ratio critical for maintaining normal expression in different mouse tissues. Moderately increased TFAM protein levels increase number but a maintained resulting unaltered whole animal metabolism. Mice ubiquitously expressing very high develop pathology leading to deficient oxidative phosphorylation (OXPHOS) early...
Abstract The highly conserved CHCHD2 and CHCHD10 are small mitochondrial proteins residing in the intermembrane space. Recently, mutations genes have been linked to severe disorders, including Parkinson’s disease amyotrophic lateral sclerosis. In cultured cells, a fraction of oligomerize form high molecular weight complex unknown function. Here, we generated whole-body Chchd2 knockout mouse investigate vivo role its protein complex. We show that is crucial for sustaining full motor capacity,...