The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-
encoded proteins including a battery of enzymes forming the replisome needed to …

Apoptosis is a process of programmed cell death that serves as a major mechanism for the
precise regulation of cell numbers, and as a defense mechanism to remove unwanted and …

Valproic acid is a widely-used first-generation antiepileptic drug, prescribed predominantly
in epilepsy and psychiatric disorders. VPA has good efficacy and pharmacoeconomic …

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically
heterogeneous group of autosomal recessive disorders that are characterized by a severe …

Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …

The human mitochondrial genome is replicated by DNA polymerase γ in concert with key
components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA …

Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders
characterised by impaired oxidative phosphorylation. Diagnosis is challenging;> 350 genes …

Mitochondrial DNA (mtDNA) resides in a high ROS environment and suffers more mutations
than its nuclear counterpart. Increasing evidence suggests that mtDNA mutations are not the …

Accurate replication of mitochondrial DNA (mtDNA) by DNA polymerase γ (Polγ) is essential
for maintaining cellular energy supplies, metabolism, and cell cycle control. To illustrate the …