Mitochondrial mass and quality are tightly regulated by two essential and opposing
mechanisms, mitochondrial biogenesis (mitobiogenesis) and mitophagy, in response to …

Until recently it was thought that most humans only harbor one type of mitochondrial DNA
(mtDNA), however, deep sequencing and single-cell analysis has shown the converse–that …

The study of metabolism is undergoing a renaissance. Since the year 2002, over 50
genetically-encoded fluorescent indicators (GEFIs) have been introduced, capable of …

Mitochondrial diseases are a large class of human hereditary diseases, accompanied by the
dysfunction of mitochondria and the disruption of cellular energy synthesis, that affect …

Mitochondria generate the energy to sustain cell viability and serve as a hub for cell
signalling. Their own genome (mtDNA) encodes genes critical for oxidative phosphorylation …

Pathogenic mitochondrial DNA (mtDNA) single-nucleotide variants are a common cause of
adult mitochondrial disease. Levels of some variants decrease with age in blood. Given …

Variants within the high copy number mitochondrial genome (mtDNA) can disrupt organelle
function and lead to severe multisystem disease. The wide range of manifestations observed …

The MELAS syndrome primarily affecting the CNS is mainly caused by the m. A3243G
mutation. The heteroplasmy in different tissues affects the phenotypic spectrum, yet the …

Mitochondrial ATP synthase (Complex V) catalyzes the last step of oxidative
phosphorylation and provides most of the energy (ATP) required by human cells. The …

Mitochondria are central to numerous metabolic pathways whereby mitochondrial
dysfunction has a profound impact and can manifest in disease. The consequences of …