Results 281 to 290 of about 533,276 (294)
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DISEASES OF THE MITOCHONDRIAL DNA
Annual Review of Biochemistry, 1992INTRODUCTION . . _ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 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
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 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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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.
Estela, Area-Gomez, Eric A, Schon
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Mitochondrial Diseases and Cardiomyopathies
Canadian Journal of Cardiology, 2015Mitochondrial 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 +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 +2 more
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Mitochondrial diseases of muscle
Current Opinion in Neurology, 1994This 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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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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Autism and mitochondrial disease
Developmental Disabilities Research Reviews, 2010AbstractAutism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors ...
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Mitochondrial Dynamics in Disease
New England Journal of Medicine, 2007Mitochondria are subcellular organelles that coordinate numerous metabolic reactions, including those of the respiratory complexes that produce the ATP that powers cellular reactions. They have often been depicted as static, with a kidney-bean shape, but there is a growing appreciation of their dynamic nature.
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