The human mitochondrial genome is extremely small compared with the nuclear genome,
and mitochondrial genetics presents unique clinical and experimental challenges. Despite …

Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

Mitochondrial disorders are a group of clinically heterogeneous diseases, commonly
defined by a lack of cellular energy due to oxidative phosphorylation (OXPHOS) defects …

The Human Genome Project, from one perspective, began in 1981 with the publication 1 of
the complete sequence of human mitochondrial DNA (mtDNA). The Cambridge reference …

Here we show that in substantia nigra neurons from both aged controls and individuals with
Parkinson disease, there is a high level of deleted mitochondrial DNA (mtDNA)(controls …

Objective The prevalence of mitochondrial disease has proven difficult to establish,
predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of …

Objective Diverse and variable clinical features, a loose genotype–phenotype relationship,
and presentation to different medical specialties have all hindered attempts to gauge the …

The mitochondrial genome encodes 13 essential subunits of the respiratory chain and has
remarkable genetics based on uniparental inheritance. Within human populations, the …

Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that
preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the …

The evolution of the human mitochondrial genome is characterized by the emergence of
ethnically distinct lineages or haplogroups. Nine European, seven Asian (including Native …