Results 271 to 280 of about 1,199,861 (319)
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The Mitochondrial Genome And Human Mitochondrial Diseases
Journal of the Peripheral Nervous System, 2002To date, more than 100 point mutations and several hundreds of structural rearrangements of mitochondrial DNA (mtDNA) are known too be connected with characteristic neuromuscular and other mitochondrial syndromes varying from those causing death at the neonatal stage to diseases with late ages of onset. The immediate cause of mitochondrial disorders is
R I, Sukernik +8 more
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Current Opinion in Rheumatology, 1994
Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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The Lancet, 2006
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 ...
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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 ...
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Mitochondrial fusion and inheritance of the mitochondrial genome
Journal of Plant Research, 2010Although maternal or uniparental inheritance of mitochondrial genomes is a general rule, biparental inheritance is sometimes observed in protists and fungi,including yeasts. In yeast, recombination occurs between the mitochondrial genomes inherited from both parents.Mitochondrial fusion observed in yeast zygotes is thought to set up a space for DNA ...
Hiroyoshi, Takano +2 more
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Mitochondrial phospholipids: role in mitochondrial function
Journal of Bioenergetics and Biomembranes, 2015Mitochondria are essential components of eukaryotic cells and are involved in a diverse set of cellular processes that include ATP production, cellular signalling, apoptosis and cell growth. These organelles are thought to have originated from a symbiotic relationship between prokaryotic cells in an effort to provide a bioenergetic jump and thus, the ...
Edgard M, Mejia, Grant M, Hatch
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Mitochondrial Oxidative Stress and Mitochondrial DNA
Clinical Chemistry and Laboratory Medicine, 2003Mitochondria produce reactive oxygen species (ROS) under physiological conditions in association with activity of the respiratory chain in aerobic ATP production. The production of ROS is essentially a function of O2 consumption. Hence, increased mitochondrial activity per se can be an oxidative stress to cells.
Dongchon, Kang, Naotaka, Hamasaki
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Mitochondrial DNA polymorphism in mitochondrial myopathy
Human Genetics, 1988In order to test the hypothesis that mitochondrial myopathy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leucocyte mt DNA has been studied in 38 patients with mitochondrial myopathy, 44 of their unaffected matrilineal relatives, and 35 normal control subjects.
I J, Holt +2 more
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Mitochondrial encephalomyopathy
Neuropathology, 2000Mitochondrial encephalomyopathy is a disease based on multisystemic mitochondrial dysfunction. Pathologic, biochemical and molecular genetic approaches to the disease have revealed the complex features of the phenotype and its relationship to the genotype.
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DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY
The Lancet, 1989Restriction enzyme analysis was done on total cellular DNA extracted from whole blood in two patients with mitochondrial myopathy and multisystem involvement and their families. The two patients had an abnormal mitochondrial genome with a large (about 8 kb) duplication present in several tissues.
J, Poulton, M E, Deadman, R M, Gardiner
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Mitochondrial Inheritance in a Mitochondrially Mediated Disease
New England Journal of Medicine, 1983Mendelian inheritance involves the transmission to successive generations of DNA contained in genes in the nucleus, but DNA is also contained in mitochondria, where it is believed to be responsible for the encoding of certain mitochondrial enzymes. Since nearly all mitochondrial DNA is maternally transmitted, one might expect a nonmendelian pattern of ...
J, Egger, J, Wilson
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