Mitochondrial disease

  title={Mitochondrial disease},
  author={A. Schapira},
  journal={The Lancet},
Defects of mitochondrial metabolism cause a wide range of human diseases that include examples from all medical subspecialties. This review updates the topic of mitochondrial diseases by reviewing the most important recent advances in this area. The factors influencing inheritance, maintenance and replication of mtDNA are reviewed and the genotype-phenotype of mtDNA disorders has been expanded, with new insights into epidemiology, pathogenesis and its role in ageing. Recently identified nuclear… Expand
Underlying role of mitochondrial mutagenesis in the pathogenesis of a disease and current approaches for translational research
It is suggested that environmental agents can cause damage in mitochondrial DNA and consequently lead to mutagenesis and current approaches for handling mitochondrial diseases, as well as available prenatal diagnostic tests, towards eliminating these maternally inherited diseases. Expand
Mitochondrial diseases of the brain.
The role of mitochondrial dysfunction such as bioenergetics defects, mitochondrial DNA mutations, gene mutations, altered mitochondrial dynamics, impaired transcription and the association of mutated proteins with mitochondria in neurodegenerative disorders are discussed. Expand
Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity
Evidence is found that POLG1 mutations are not a contraindication for liver transplantation; rather, mutation status and age at onset affect survival; this finding should be taken in consideration in the treatment of VPA-induced ALF. Expand
Mitochondrial Medicine for Aging and Neurodegenerative Diseases
  • P. Reddy
  • Biology, Medicine
  • NeuroMolecular Medicine
  • 2008
Critical issues of mitochondria causing dysfunction in aging and neurodegenerative diseases are discussed, and the potential of developing mitochondrial medicine, particularly mitochondrially targeted antioxidants, to treat aging and neurologic diseases is discussed. Expand
Mitochondrial Dysfunction and Oxidative Stress in Parkinson’s Disease
  • I. Onyango
  • Biology, Medicine
  • Neurochemical Research
  • 2007
Molecular studies in both toxin based models and genetic based models of Parkinson’s disease suggest a major etiologic role for mitochondrial dysfunction in the pathogenesis of PD. Expand
Mitochondrial matters of the brain: the role in Huntington’s disease
The localization of mutant htt within mitochondria and the association between transcriptional dysregulation caused by impaired PGC-1α activity with abnormal mitochondrial biogenesis and function has provided further links with additional potential pathogenic mechanisms. Expand
Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology
It is confirmed that mutations of PINK1 cause abnormal mitochondrial morphology, bioenergetic function and oxidative metabolism in human tissues but suggest that the biochemical consequences may vary between mutations. Expand
An overview of neurological and neuromuscular signs in mitochondrial diseases.
The wealth of this neurological and neuromuscular symptomatology through different syndromes reported in the literature is described, according to preponderant signs and to modes of inheritance, as key elements to guide genetics testing. Expand
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
It is shown that a heterozygous mis-sense mutation in OPA1 leads to multiple mtDNA deletions in skeletal muscle and a mosaic defect of cytochrome c oxidase (COX), demonstrating the importance of OPA 1 in mtDNA maintenance, and implicates OPA2 in diseases associated with secondary defects of mtDNA. Expand
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress
It is suggested that SOD2 and catalase could provide specific targets to improve the detoxification of reactive oxygen species that affects muscle proteins in these patients and that oxidative stress regulates the expression of the two enzymes post‐transcriptionally. Expand