Results 321 to 330 of about 735,599 (336)

Mitochondrial diseases: genetics

BioFactors, 1998
According 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

2023
The 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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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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Models of mitochondrial disease

2002
Publisher 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 Diseases of the Brain

Free Radical Biology and Medicine, 2013
Neurodegenerative 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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Mitochondrial Genetics and Disease

Journal of Child Neurology, 2014
Mitochondrial 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.
Estela, Area-Gomez, Eric A, Schon
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Mitochondrial Diseases and Cardiomyopathies

Canadian Journal of Cardiology, 2015
Mitochondrial cardiomyopathies are clinically and genetically heterogeneous. An integrative approach encompassing clinical, biochemical, and molecular investigations is required to reach a specific diagnosis. In this review we summarize the clinical and genetic aspects of mitochondrial disorders associated with cardiomyopathy, including disorders of ...
Catherine, Brunel-Guitton, Alina, Levtova, Florin, Sasarman   +2 more
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Primary mitochondrial diseases

Primary mitochondrial diseases (PMDs) are a heterogeneous group of hereditary disorders characterized by an impairment of the mitochondrial respiratory chain. They are the most common group of genetic metabolic disorders, with a prevalence of 1 in 4,300 people.
Chiara, Pizzamiglio, Michael G, Hanna, Robert D S, Pitceathly   +2 more
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Mitochondrial diseases of muscle

Current Opinion in Neurology, 1994
This review of the current literature focuses on three main topics: 1) new disease-associated mitochondrial DNA mutations, 2) new mitochondrial DNA disease phenotypes, and 3) mechanisms of inheritance and disease pathogenesis.
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Mitochondrial Diseases

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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