Mutations in the human mitochondrial genome are known to cause an array of diverse
disorders, most of which are maternally inherited, and all of which are associated with …

The unorthodox genetics of the mtDNA is providing new perspectives on the etiology of the
common “complex” diseases. The maternally inherited mtDNA codes for essential energy …

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

The oocyte is recognised as the largest cell in mammalian species and other multicellular
organisms. Mitochondria represent a high proportion of the cytoplasm in oocytes and …

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

Prolonged antibiotic treatment can lead to detrimental side effects in patients, including
ototoxicity, nephrotoxicity, and tendinopathy, yet the mechanisms underlying the effects of …

Mitochondrial dysfunction has been linked to a wide range of degenerative and metabolic
diseases, cancer, and aging. All these clinical manifestations arise from the central role of …

Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …

The human mitochondrial genome involves over 1,000 genes, dispersed across the
maternally inherited mitochondrial DNA (mtDNA) and the biparentally inherited nuclear DNA …

We have performed a detailed population study of patients with genetic muscle disease in
the northern region of England. Our current clinic population comprises over 1100 patients …