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Mitochondrial DNA disorders [PDF]

European Journal of Pediatrics, 2000
Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs.
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Mitochondrial DNA in Tumors

Toxicology Mechanisms and Methods, 2004
Mitochondria, cellular powerhouses, play a central role in apoptosis. In addition, they are suspected to contribute to aging. There is also increasing evidence that abnormalities in mitochondrial function help cancer development. Changes in mitochondrial transcription and oxidative phosphorylation pathways are observed in many types of cancer.
Ewa Bartnik, Jarosław Bryk, Anna Lorenc
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DISEASES OF THE MITOCHONDRIAL DNA

Annual Review of Biochemistry, 1992
INTRODUCTION . . _ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 175 THE HUMAN MITOCHONDRIAL DNA AND OXIDATIVE PHOSPHORYLATION 1176 Mitochondrial Biogenesis ... 1 176 Mitochondrial OXPHOS Complexes and their Synthesis 1 178 Developmental Regulation of Nuclear OXPHOS Genes ...
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Transcription of Mitochondrial DNA

Critical Reviews in Biochemistry, 1983
While mitochondrial DNA (mtDNA) is the simplest DNA in nature, coding for rRNAs and tRNAs, results of DNA sequence, and transcript analysis have demonstrated that both the synthesis and processing of mitochondrial RNAs involve remarkably intricate events.
H. F. Tabak, L. A. Grivell, P. Borst, Giuseppe Attardi   +3 more
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Mitochondrial DNA mutators

Cellular and Molecular Life Sciences, 2004
In this article we review our current knowledge of the mechanisms by which point mutations arise in the mitochondrial DNA (mtDNA) of Saccharomyces cerevisiae and discuss to what extent these mechanisms operate in human mtDNA mutagenesis. The 3'-5' exonuclease proofreading activity of Pol gamma ensures accuracy of mtDNA replication in both yeast and ...
Jingping Hu, S. Vanderstraeten, Françoise Foury   +2 more
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The evolution of mitochondrial DNA

Current Opinion in Genetics & Development, 1994
Although the massive sequencing of mitochondrial DNA from various organisms, together with studies of a different nature, has contributed enormously to the knowledge of the organization and function of this cytoplasmic genome, many issues, mainly the relationships with the nuclear genome, remain unsolved.
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Mitochondrial DNA in Telocytes

2017
Telocyte (TC) is a new identified interstitial cell type with a small nuclear and one or several long and thin prolongations with enlargements on them. They were found in many mammals including humans, mouse, rats, dogs, and monkeys and play vital roles in many physiological and pathological conditions.
Dragos Cretoiu, Dongli Song, Xiangdong Wang   +2 more
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Mitochondrial Oxidative Stress and Mitochondrial DNA

Clinical Chemistry and Laboratory Medicine, 2003
Mitochondria 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, 1988
In 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.
J. A. Morgan-Hughes, I. J. Holt, A. E. Harding   +2 more
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DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

The Lancet, 1989
Restriction 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.
R. Mark Gardiner, Joanna Poulton, MaryE. Deadman   +2 more
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