Results 221 to 230 of about 483,484 (261)
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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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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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Mitochondrial diseases: genetics
BioFactors, 1998According to the now widely-accepted endosymbiont hypothesis, mitochondria are the descendents of a bacterium that was “captured” early in evolution by a proto-eukaryote. Accordingly, this organelle is about the size of a bacterium (i.e., between 1–10 microns), and has many bacteria-like features.
E A, Schon, M H, Grossman
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Neuroimaging in mitochondrial disease
2023The anatomic complexity of the brain in combination with its high energy demands makes this organ specifically vulnerable to defects of mitochondrial oxidative phosphorylation. Therefore, neurodegeneration is a hallmark of mitochondrial diseases. The nervous system of affected individuals typically shows selective regional vulnerability leading to ...
Distelmaier, Felix, Klopstock, Thomas
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Journal of Hepatology, 2005
Despite our tendency to overeat, excessive fat accumulation was prevented in the past, as any excess weight soon impaired the physical fitness required to gather food, and to either fight or escape predators or foes. However, for the first time in human history, a large fraction of the population in affluent countries can now concomitantly indulge in ...
Dominique, Pessayre, Bernard, Fromenty
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Despite our tendency to overeat, excessive fat accumulation was prevented in the past, as any excess weight soon impaired the physical fitness required to gather food, and to either fight or escape predators or foes. However, for the first time in human history, a large fraction of the population in affluent countries can now concomitantly indulge in ...
Dominique, Pessayre, Bernard, Fromenty
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Treatment of Mitochondrial Disease
Journal of Bioenergetics and Biomembranes, 1997Defects of the mitochondrial genome are widely recognized as important causes of disease in man. Patients may present at any age with clinical symptoms that vary from acute episodes of lactic acidosis in infancy to severe neurodegenerative illness in adulthood.
R W, Taylor +4 more
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Nature Biotechnology
In this review the author describes the current knowledge about mitochondrial diseases (mitochondrial myopathies, mitochondrial encephalomyopathies and mitochondrial cardiomyopathies) in both clinical and experimental medicine. This description concerns historical development of mitochondrial diseases, biochemical alterations and genetic disturbances ...
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In this review the author describes the current knowledge about mitochondrial diseases (mitochondrial myopathies, mitochondrial encephalomyopathies and mitochondrial cardiomyopathies) in both clinical and experimental medicine. This description concerns historical development of mitochondrial diseases, biochemical alterations and genetic disturbances ...
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Models of mitochondrial disease
2002Publisher Summary This chapter discusses the molecular mechanisms of disease pathogenesis and describes cell and animal models of respiratory-chain disease. The models that have been developed can be used to address a number of different issues: to demonstrate whether the cause of a given respiratory-chain disease is because of a nuclear or a ...
Danae, Liolitsa, Michael G, Hanna
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Mitochondrial Genetics and Disease
Journal of Child Neurology, 2014Mitochondrial disease resulting in reduced bioenergetic output can be due to mutations in either nuclear DNA–encoded or mitochondrial DNA–encoded gene products. We summarize some of the underlying principles of mitochondrial genetics that impact the diagnosis and pathogenesis of mitochondrial disorders. In addition, we present a brief overview of a new
Estela, Area-Gomez, Eric A, Schon
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Mitochondrial Diseases of the Brain
Free Radical Biology and Medicine, 2013Neurodegenerative disorders are debilitating diseases of the brain, characterized by behavioral, motor and cognitive impairments. Ample evidence underpins mitochondrial dysfunction as a central causal factor in the pathogenesis of neurodegenerative disorders including Parkinson's disease, Huntington's disease, Alzheimer's disease, Amyotrophic lateral ...
Rajnish K, Chaturvedi, M, Flint Beal
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