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 (mt DNA), and alterations in mt DNA may play an important role in the multistep carcinogenesis of at least some types of human cancer. In addition to mutations of mt DNA, many mitochondrial syndromes are due to abnormalities in nuclear genes related to oxidative phosphorylation (OXPHOS). Mitochondrial t RNA (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 mt DNA heteroplasmy by parallel sequencing. Each eukaryotic cell contains hundreds of mitochondria with hundreds of mitochondria genomes. Mutant and wild-type mt DNA may co-exist as heteroplasmy, and cause human disease. The purpose of this protocol is to simultaneously determine mt DNA 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 mt DNA from nuclear mutations.
This e-book — a curated collection from e LS, WIREs, and Current Protocols — offers a fantastic introduction to the field of mitochondrial diseases for students or interdisciplinary collaborators.
Table of Content
Introduction
Mitochondrial DNA Copy Number Alterations in Human Cancers
e LS
Man Yu
Mitochondrial Disorders: Nuclear Gene Mutations
e LS
Daniele Ghezzi and Massimo Zeviani
Mitochondria as a Key Determinant of Aging
e LS
Ludivine Walter and Siu Sylvia Lee
Advanced Reviews
Mitochondrial t RNA Mutations and Disease
WIREs RNA
John W. Yarham, Joanna L. Elson, Emma L. Blakely, Robert Mc Farland, Robert W. Taylor
Human Mitochondrial Diseases Caused by Lack of Taurine Modification in Mitochondrial t RNAs
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
Further Reading
e LS
WIREs
Current Protocols
About the author
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