Mitochondrial encephalomyopathies: what next?
- 1 July 1996
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 19 (4) , 489-503
- https://doi.org/10.1007/bf01799110
Abstract
In few areas of medicine has progress been more spectacular than in the field of mitochondrial diseases, especially those related to mtDNA mutations. Much remains to be done, however, and this brief review discusses the following areas of research where progress has been more limited or data are still controversial: (1) the molecular basis of respiratory-chain defects due to nuclear DNA mutations; (2) defects of mitochondrial protein importation; (3) defects of intergenomic signalling; (4) pathophysiology of mtDNA-related disorders; (5) ageing and age-related neuro-degenerative diseases; (6) therapy; and (7) genetic counselling.Keywords
This publication has 73 references indexed in Scilit:
- Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patientsAnnals of Neurology, 1996
- Aging, energy, and oxidative stress in neurodegenerative diseasesAnnals of Neurology, 1995
- Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndromeHuman Molecular Genetics, 1995
- Decreasing hydraulic conductivity of Bruch's membrane: Relevance to photoreceptor survival and lipofuscinosesAmerican Journal of Medical Genetics, 1995
- Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patientsBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
- Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathyBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1994
- Low Levels of Mitochondrial Transcription Factor A in Mitochondrial DNA DepletionBiochemical and Biophysical Research Communications, 1994
- A Fatal, Systemic Mitochondrial Disease with Decreased Mitochondrial Enzyme Activities, Abnormal Ultrastructure of the Mitochondria and Deficiency of Heat Shock Protein 60Biochemical and Biophysical Research Communications, 1993
- Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with leigh syndromeBrain & Development, 1992
- Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic NeuropathyScience, 1988