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Mitochondria are complex organelles, possessing a double-membrane and even their own genome, the mtDNA. They play a pivotal role in cellular metabolism, respiration, and production of ATP essential for the normal function of all human organ systems. It is not surprising, therefore, that genetic defects of mitochondrial functions cause a wide spectrum of human diseases. This book provides the first modern and truly comprehensive coverage of the biochemistry, genetics, and pathology of mitochondria in different organisms. It particularly focuses on the recent advances in our understanding of basic mitochondrial research to the consequences of dysfunction at the molecular level.

The 13 contributions written by leading researchers in the field include topics such as: mitochondrial genome evolution and mtDNA stability, mitochondrial biogenesis and protein quality control, mitochondrial morphology, assembly and function of the mitochondrial energy generation apparatus and mitochondrial metabolic pathways. These are particularly oriented to link in these various mitochondrial pathways to the clinical consequences of their dysfunctions. ... Read more

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Wellcome Trust, Cambridge, UK. Summarizes the advances in human mitochondrial genetics made over the past decade. Reviews the mitochondrial DNA metabolism and normal mitochondrial function. Also discusses specific mitochondrial and nuclear mutations and the diseases they cause. For researchers. ... Read more

Customer Reviews (1)

Excellent text for a specific purpose
Written specifically for those interested in the most common genetics abberations found with mitrochondrial dysfunction and disease.Not all genetic abberations are listed but then again, new ones are discovered from time to time and their effect in disease is not always well understood or varified by multiple studies.Genetics is important to understand in relation to mitrochondrial disorders especially in those who may pass the gene to their children.Unless understood by previous knowledge, this text may come across as complicated in some chapters.A technical text, best understood by those of the medical profession, geneticists and students of same.As a teaching text, a great deal of information necessary in understanding the genetics of mitrochondrial dysfunction is made available.For those who seek a well-rounded and well-written overview, somewhat technical but not difficult to understand is the book Mitochondrial Medicine Edited by DiMauro, Hirano and Schon which focus is on how disorders of the mitochondria affect various organs/systems and a chapter on current treatment techniques. ... Read more

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Mitochondrial DNA is one of the most closely explored genetic systems, because it can tell us so much about the human past. This book takes a unique perspective, presenting the disparate strands that must be tied together to exploit this system. From molecular biology to anthropology, statistics to ancient DNA, this first volume of three presents a comprehensive global picture and a critical appraisal of human mitochondrial DNA variation.

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The pivotal role of mitochondrial functions in carcinogenesis is quite well established. However, the critical role of mitochondrial genome alterations to cancer development is muted in traditional textbooks. Recent scientific efforts have provided unequivocal evidence for mitochondrial genome mutations and content changes in cancer development, progression, and therapy. This pioneering book is a unique compilation of mitochondrial genome alterations in cancer. While primarily focused on the emerging role of mitochondrial genome changes, bioenergetics and signaling pathways, attention is also given to the metabolic transformations of the cancer cell, as well as the established altered cell death processes that underlie cancer evolution and treatment resistance. ... Read more

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The critically acclaimed laboratory standard for forty years, Methods in Enzymology is one of the most highly respected publications in the field of biochemistry. Since 1955, each volume has been eagerlyawaited, frequently consulted, and praised by researchers and reviewers alike. More than 250 volumes have been published (all of them still in print) and much of the material is relevant even today--truly an essential publication for researchers in all fields of life sciences.

Key Features
* Structural and functional analysis of oxidative phosphorylation complexes
* Import of proteins and RNA into mitochondria
* Ion and metabolite transport systems in mitochondria
* Biophysical methods for mitochondrial function analysis
* Mitochondrial inheritance and turnover ... Read more

Product Description
The critically acclaimed laboratory standard for forty years, Methods in Enzymology is one of the most highly respected publications in the field of biochemistry. Since 1955, each volume has been eagerlyawaited, frequently consulted, and praised by researchers and reviewers alike. More than 260 volumes have been published (all of them still in print) and much of the material is relevant even today--truly an essential publication for researchers in all fields of life sciences.

Key Features
* This volume covers methodology used in
* Mitochondrial gene expression
* Mitochondrial genetics and gene manipulation
* Mitochondrial diseases and aging ... Read more

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National Institutes of Health, Research Triangle Park, NC. Features proven methods for analyzing mitochondrial DNA and the proteins that maintain it; treatment of the genetics, biochemistry, and cell biology of mtDNA; latest developments in applying PCR technology to the analysis of mtDNA; and identification of mtDNA mutations. ... Read more

Customer Reviews (1)

Nice detailed protocols
This book is for human mtDNA analysis protocols. At last a book that gives you all the details that you don't find in journal articles. Next time please include some plant mitochondria methods and I give you five stars! ... Read more

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Many human genetic diseases associated with blood, brain, colon, ear, eye, heart, kidney, liver, muscle, and pancreas are caused by mutations in mitochondrial DNA. Mutations in DNA can result in defects of the electron transport complexes, intermediates of the tricarboxylic acid cycle and substrate transport. The clinical manifestation of these diseases often involves muscle and the nervous system. Mitochondrial DNA mutations have now been associated with aging as well as age-related degenerative diseases such as Parkinson's, Alzheimer's, and Huntington's diseases. Changes in structure, function, and a number of mitochondria play an important role in carcinogenesis. Furthermore, the role of mitochondria in the execution of programmed cell death or apoptosis has been recognized recently. ... Read more

Product Description

Mitochondria are complex organelles, possessing a double-membrane and even their own genome, the mtDNA. They play a pivotal role in cellular metabolism, respiration, and production of ATP essential for the normal function of all human organ systems. It is not surprising, therefore, that genetic defects of mitochondrial functions cause a wide spectrum of human diseases. This book provides the first modern and truly comprehensive coverage of the biochemistry, genetics, and pathology of mitochondria in different organisms. It particularly focuses on the recent advances in our understanding of basic mitochondrial research to the consequences of dysfunction at the molecular level.

The 13 contributions written by leading researchers in the field include topics such as: mitochondrial genome evolution and mtDNA stability, mitochondrial biogenesis and protein quality control, mitochondrial morphology, assembly and function of the mitochondrial energy generation apparatus and mitochondrial metabolic pathways. These are particularly oriented to link in these various mitochondrial pathways to the clinical consequences of their dysfunctions.

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The genetic history of Europe can be inferred from the patterns of genetic diversity across continents and time. The primary data to develop historical scenarios coming from sequences of mitochondrial, Y-chromosome and autosomal DNA from modern populations and if available from ancient DNA. European populations have a complicated demographic and genetic history, including many successive periods of population growth. ... Read more

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Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell. Mitochondrial DNA (mtDNA) is not transmitted through nuclear DNA (nDNA). In humans, as in most multicellular organisms, mitochondrial DNA is inherited only from the mother's ovum. The mitochondrial DNA inherited by a female from its mother's egg produces mitochondria to supply the energy to sustain the female's eggs. Mitochondrial inheritance is therefore non-Mendelian, as Mendelian inheritance presumes that half the genetic material of a fertilized egg (zygote) derives from each parent. ... Read more

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This digital document is an article from Human Biology, published by Wayne State University Press on February 1, 1994. The length of the article is 3025 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

From the author: In two population samples of 77 Bamileke (Bantu sensu lato) and 18 Bakaka (Bantu sensu stricto) from southwestern Cameroon, the mtDNA RFLPs for the HpaI, HaeII, MspI, AvaII, and HincII enzymes were studied. Two of the MspI morphs had not been reported before. Six new types were found, four of which represent new combinations of previously described morphs. The AvaII morph 3 was found in association with the "African" HpaI morph 3. This finding is in line with previous observations in Negroids and demonstrates the usefulness of this combination as an indicator of black African ancestry. Two differences were noted between the groups: a lower frequency of HpaI morph 3 and a higher frequency of HaeII morph 4 in the Bakaka with respect to the Bamileke (0.44 versus 0.62 and O.17 versus 0.03, respectively). The importance of these differences could not be evaluated because the Bakaka sample was too small. Nevertheless, because the Bamileke show a relatively low frequency of mtDNA type 1 (2.1.1.1.1.-) and high frequencies of mtDNA types 2 (3.1.1.1.3.-) and 7 (3.1.1.1.1.-), they can be placed with the other Negroids so far examined, but they are closer to the Senegalese than to the Bantu from South Africa. In comparing the Bamileke and the Bantu, mtDNA type 3 (3.1.1.2.2.-) appears particularly discriminative because it is present in all the Bantu subgroups examined but not in the Bamileke. mtDNA type 39 (2.1.4.1.1.-), which was observed only in the Bamileke, might be considered likewise discriminative, although to a lesser degree.

Citation Details
Title: Genetic studies in Cameroon: mitochondrial DNA polymorphisms in Bamileke.
Author: Rosaria Scozzari
Publication: Human Biology (Refereed)
Date: February 1, 1994
Publisher: Wayne State University Press
Volume: v66Issue: n1Page: p1(12)

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Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell. Mitochondrial DNA (mtDNA) is not transmitted through nuclear DNA (nDNA). In humans, as in most multicellular organisms, mitochondrial DNA is inherited only from the mother's ovum. The mitochondrial DNA inherited by a female from its mother's egg produces mitochondria to supply the energy to sustain the female's eggs. ... Read more

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High Quality Content by WIKIPEDIA articles! The genetics and archaeogeneticsof the ethnic groups of South Asiaaim at uncovering these groups' genetic history.Their geographic position makes Indian populations important for the study of the early dispersal of human populations on the Eurasian continent. It has been found that the node of the phylogenetic tree of mtDNA, ancestral to more than 90 per cent of the present-day typically European maternal lineages are also to be found in south Asia at relatively high frequencies. The inferred divergence of this common ancestral node is estimated to have occurred slightly less than 50,000 years ago. The Indian Genome Variation Consortium observed high levels of genetic divergence between groups of populations that cluster largely on the basis of ethnicity and language. However studies based on mtDNA variation have reported genetic unity of Indian populations. Recent research based on molecular studies and archaeological record have confirmed this and suggest an autochthonous differentiation of the genetic structure of the populations in South Asia. ... Read more

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Chapters: Human Mitochondrial Molecular Clock. Source: Wikipedia. Pages: 66. Not illustrated. Free updates online. Purchase includes a free trial membership in the publisher's book club where you can select from more than a million books without charge. Excerpt: The human mitochondrial molecular clock is the rate at which mutations have been accumulating in the mitochondrial genome of hominids during the course of human evolution. The archeological record of human activity from early periods in human prehistory is relatively limited and its interpretation has been controversial. Because of the uncertainties from archeological record, scientists have turned to molecular dating techniques in order to refine the timeline of human evolution. A major goal of scientists in the field is to develop an accurate hominid mitochondrial molecular clock which could then be used to confidently date events that occurred during the course of human evolution. Estimates of the mutation rate of human mitochondrial DNA (mtDNA) vary greatly depending on the available data and the method used for estimation. The two main methods of estimation, phylogeny based methods and pedigree based methods, have produced mutation rates that differ by almost an order of magnitude. Current research has been focused on resolving the high variability obtained from different rate estimates. A major assumption of the molecular clock theory is that mutations within a particular genetic system occur at a statistically uniform rate and this uniform rate can be used for dating genetic events. In practice the assumption of a single uniform rate is an oversimplification. Though a single mutation rate is often applied, it is often a composite or an average of several different mutation rates. Many factors influence observed mutation rates and these factors include the type of samples, the region of the genome studied and the time period covered. The rate at which mutatio...More: http://booksllc.net/?id=25372452 ... Read more

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The concept of mitochondrial diseases originated in 1962 with the description by Luft and coworkers of a patient with nonthyroidal hypermetabolism due to loose coupling of oxidation and phosphorylation in muscle mitochondria. Over the following quarter of a century, thanks to W. King Engel's "ragged-red fibres" as convenient markers for mitochondrial pathology, numerous papers described clinical, morphological, and biochemical features of "mitochondrial myopathies".In 1988 the discovery of mutations in mitochondrial DNA led to an explosive expansion of research into mitochondrial disorders. Throughout the 1990s the rapid identification of multiple mitochondrial gene defects associated with clinically diverse disorders has left practitioners puzzled about diagnosing such heterogeneous and complex syndromes.Through updated data, this book discusses now what Luft aptly called "mitochondrial medicine". In so doing, it considers the pivotal role of mitochondria in drug sensitivity, their key roles in ageing, apoptosis, and neurodegeneration along with primary mitochondrial diseases due to mutations in the nuclear genome, in the mitochondrial genome, or in the cross-talk between the two genomes. ... Read more

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This digital document is an article from Journal of Shellfish Research, published by National Shellfisheries Association, Inc. on December 15, 2004. The length of the article is 3160 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Lack of genetic divergence in nuclear and mitochondrial DNA between subspecies of two Haliotis species.
Author: Zhi Yong Wang
Publication: Journal of Shellfish Research (Refereed)
Date: December 15, 2004
Publisher: National Shellfisheries Association, Inc.
Volume: 23Issue: 4Page: 1143(4)

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The identification of the mitochondrion represents a tremendous achievement in the attempt by scientists to understand the essence of life and life's energy. We now know that the mitochondrion is the intracellular powerhouse that generates ATP, the chemical energy source, through a chain of reactions called oxidative phosphorylation. The realm of mitochondrial research has steadily broadened, and the mitochondrion is currently known to play major roles in many diseases: neuromuscular disorders, Parkinson's disease, Alzheimer's disease, diabetes mellitus, senescence, programmed cell death, and carcinogenesis, to name just a few. Furthermore, mitochondria tell us the history of the evolution of life and of our migration out of Africa. Many scientific societies have been founded with the aim of understanding and implementing the vast knowledge gained by the study of mitochondria. Likewise, the Asian Society for Mitochondrial Research and Medicine (ASMRM) brought together leading scientists from Asia and around the world to present and discuss recent progress in the field of mitochondriology.The sessions covered a wide range of complementary research areas: human evolutionary history and mitochondrial diseases, control of mitochondrial function, mitochondrial transcription factor, the mechanisms of mitochondrial damage, oxidative stress and apoptosis, and the diagnosis and treatment of mitochondrial diseases. ... Read more

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This digital document is an article from Pacific Science, published by University of Hawaii Press on July 1, 2008. The length of the article is 4198 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available immediately after purchase. You can view it with any web browser.

Citation Details
Title: Low genetic diversity of oval squid, Sepioteuthis cf. lessoniana (Cephalopods: Loliginidae), in Japanese waters inferred from a mitochondrial DNA non-coding region (1).(Report)
Author: Misuzu Aoki
Publication: Pacific Science (Magazine/Journal)
Date: July 1, 2008
Publisher: University of Hawaii Press
Volume: 62Issue: 3Page: 403(9)

Article Type: Report

Distributed by Gale, a part of Cengage Learning ... Read more