Mitochondrial disease enters the differential diagnosis of a wide range of CNS and PNS presentations. Respiratory chain ATP production is under bigenomic genetic control. Adult mitochondrial diseases are mainly caused by mutations in mitochondrial DNA (mtDNA), and nuclear gene defects usually present with more severe childhood phenotypes. Recently, mutations in certain nuclear genes--for exampl...

Defects in the mitochondrial DNA replication enzyme, polymerase γ, are an important cause of mitochondrial disease with ∼25% of all adult diagnoses attributed to mutations in the POLG gene. Peripheral neuronopathy is often part of the clinical syndrome and can represent the most disabling feature. In spite of this, the molecular mechanisms underlying the neuronopathy remain to be elucidated and...

Background: Age is a major risk factor in developing heart diseases and has been associated with profound transcriptional changes in mammalian tissues. Low tissue selenium has recently been linked to several age-related diseases, including cardiovascular disease. This study investigated the global effects of age and dietary supplementation of selenium on heart transcriptional profiles in POLG m...

Congenital bilateral convergent strabismus with exophthalmus (BCSE) has been reported in many cattle populations. In German Brown cattle BCSE is supposed to be caused by a dominant single major gene. Affected animals show a bilateral symmetrical protrusion of the eyeball associated with an anterior-medial rotation of the eye. According to the high similarity of pathology and clinical features o...

Mutations in Pol γ represent a major cause of human mitochondrial diseases, especially those affecting the nervous system in adults and in children. Recessive mutations in Pol γ represent nearly half of those reported to date, and they are nearly uniformly distributed along the length of the POLG1 gene (Human DNA Polymerase gamma Mutation Database); the majority of them are linked to the most s...

Case presentation: A one year and two months old girl, born at term with a birth weight of 2990 g unremarkable prenatal history non-consanguineous parents, presented ocular deviation four age. retinography brain MRI were performed, showing no abnormalities. At five age, she stopped making eye contact, experienced delayed psychomotor development sudden social, behavioral language deterioration. ...