Mitochondrial genetic diseases

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منابع مشابه

ATP Synthase Diseases of Mitochondrial Genetic Origin

1 Institut de Biochimie et Génétique Cellulaires, Centre National de la Recherche Scientifique UMR 5095, Université de Bordeaux, Bordeaux, France, 2 Department of Life Sciences, Imperial College London, London, United Kingdom, 3 Department of Structural Biology, Max-Planck-Institute of Biophysics, Frankfurt, Germany, 4 Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw...

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Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

To perform preimplantation genetic diagnosis for women carrying heteroplasmic mitochondrial DNA (mtDNA) mutations, it is necessary to ensure that the proportion of mutant mtDNA diagnosed in the biopsied cell gives an accurate indication of the mutant load in the remaining embryo. A heteroplasmic mouse model, carrying NZB and BALB mtDNA genotypes, was used to study the relative proportions of ea...

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Mitochondrial diseases and genetic defects of ATP synthase.

ATP synthase is a key enzyme of mitochondrial energy conversion. In mammals, it produces most of cellular ATP. Alteration of ATP synthase biogenesis may cause two types of isolated defects: qualitative when the enzyme is structurally modified and does not function properly, and quantitative when it is present in insufficient amounts. In both cases the cellular energy provision is impaired, and ...

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melatonin and human mitochondrial diseases

mitochondrial dysfunction is one of the main causative factors in a wide variety of complications such as neurodegenerative disorders, ischemia/reperfusion, aging process, and septic shock. decrease in respiratory complex activity, increase in free radical production, increase in mitochondrial synthase activity, increase in nitric oxide production, and impair in electron transport system and/or...

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Mitochondrial Diseases

Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the main part of cellular energy in the form of ATP. Although several proteins related with signalling, assembling, transporting, and enzymatic function can be impaired in mitochondrial diseases, most frequently the activity of the respiratory chain protein complexes is primarily or ...

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ژورنال

عنوان ژورنال: Current Opinion in Pediatrics

سال: 2010

ISSN: 1040-8703

DOI: 10.1097/mop.0b013e3283402e21