Mitochondrial Diseases.pdf

Mitochondrial Diseases PDF

This collection of reviews and protocols provides the reader with an introduction to the current state of knowledge on how various diseases are related to mitochondrial dysfunction. Mitochondria contain their own genome, a small, circular double-stranded DNA (mtDNA), and alterations in mtDNA may play an important role in the multistep carcinogenesis of at least some types of human cancer. In addition to mutations of mtDNA, many mitochondrial syndromes are due to abnormalities in nuclear genes related to oxidative phosphorylation (OXPHOS). Mitochondrial tRNA (MTT) gene mutations are an important cause of human morbidity and are associated with a wide range of pathology, from isolated organ?]specific diseases such as myopathy or hearing loss, to multisystem disorders with encephalopathy, gastrointestinal dysmotility, and life?]threatening cardiomyopathy. The relationship of the mitochondrion organelle to aging and longevity is also discussed. Laboratory protocols describe methodology to characterize mtDNA heteroplasmy by parallel sequencing. Each eukaryotic cell contains hundreds of mitochondria with hundreds of mitochondria genomes. Mutant and wild-type mtDNA may co-exist as heteroplasmy, and cause human disease. The purpose of this protocol is to simultaneously determine mtDNA sequence and quantify the heteroplasmic level. Another protocol describes procedures for obtaining tissue sections and cell material suitable for histological evaluation of OXPHOS activity and integrity and immunodetection of the complexes in tissue from patients suspected of mitochondrial disease. Emphasis lies on the diagnostic potential of these techniques to differentiate mtDNA from nuclear mutations. This e-book a curated collection from eLS, WIREs, and Current Protocols offers a fantastic introduction to the field of mitochondrial diseases for students or interdisciplinary collaborators. Table of Contents: Introduction Mitochondrial DNA Copy Number Alterations in Human Cancers eLS Man Yu Mitochondrial Disorders: Nuclear Gene Mutations eLS Daniele Ghezzi and Massimo Zeviani Mitochondria as a Key Determinant of Aging eLS Ludivine Walter and Siu Sylvia Lee Advanced Reviews Mitochondrial tRNA Mutations and Disease WIREs RNA John W. Yarham, Joanna L. Elson, Emma L. Blakely, Robert McFarland, Robert W. Taylor Human Mitochondrial Diseases Caused by Lack of Taurine Modification in Mitochondrial tRNAs WIREs RNA Suzuki Tsutomu, Nagao Asuteka, Suzuki Takeo Protocols Next Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy Current Protocols in Human Genetics Taosheng Huang Histochemical Methods for the Diagnosis of Mitochondrial Diseases Current Protocols in Human Genetics Boel De Paepe, Jan L. De Bleecker, Rudy Van Coster

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Mitochondrial Diseases.pdf

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Sofia Voigt

21.10.2016 · Mitochondrial diseases are a group of disorders caused by genetic mutations. In this animation, Nature Video finds out how these diseases arise, and how new techniques can stop them being passed

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Matteo Müller

Mitochondrial Diseases in Man and Mouse | … 05.03.1999 · Mitochondrial defects occur in a wide variety of degenerative diseases, aging, and cancer. One of the first indications that mitochondria may play a role in pathogenesis was the report nearly 40 years ago of a patient with hypermetabolism whose skeletal muscle contained large numbers of abnormal mitochondria, a condition now known as mitochondrial myopathy ().

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Noel Schulze

Mitochondrial dynamics provides a new way to understand the pathophysiology of mitochondrial disorders and other diseases related to mitochondria dysfunction such as diabetes, heart failure, or Hungtinton’s disease. The knowledge about mitochondrial dynamics also offers new therapeutics targets in mitochondrial diseases.

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Jason Lehmann

Encompassing all aspects of rare diseases and orphan drugs, Orphanet Journal of Rare Diseases features high quality reviews and original articles in Mitochondrial Diseases: Models and Methods: Amazon.de ...

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Jessica Kohmann

mitochondrial diseases | Übersetzung Englisch …