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Doody's Review ServiceReviewer: Rhona M. Jack, PhD (Children's Hospital and Regional Medical Center)
Description: This is a review of mitochondrial physiology, pathology, and genetics from a clinical perspective.
Purpose: The book endeavors to give the reader a basic understanding of mitochondrial structure and function, mitochondrial DNA replication and expression, and association of disease states with mitochondrial and nuclear DNA mutations.
Audience: The target audience for this book is most likely clinical researchers and physicians involved in mitochondrial research. Physicians seeing patients where mitochondrial disease is suspected, primarily neurologists and medical geneticists, will benefit from this concise review.
Features: The book has appropriate illustrations and diagrams to elucidate pathways or mitochondrial DNA maps. There are a few photographs when indicated to illustrate light and electron microscopic changes in muscle due to mitochondrial myopathy and NMR changes in the brain characteristic of mitochondrial disease. The book includes a glossary, but the level of sophistication of likely readers may make the glossary superfluous. The book is comprehensively referenced to lead the reader directly to original articles.
Assessment: The area of mitochondrial disease is extremely important clinically at this time, since the estimates of patients affected with mitochondrial disease are high. Making sense of aberrant respiratory chain enzymes in a sick patient and differentiating primary from secondary mitochondrial dysfunction only confound clinical diagnosis. Giving families accurate information about recurrence risk is difficult especially without DNA confirmation of disease. This book does an admiral job of addressing those issues, and crystallizing a wealth of information about known mitochondrial diseases. While all answers are not known at this time, the book pulls together as much available information as possible to provide the best recommendations with authority. Authors are internationally recognized experts in their field. If the editor were considering a future edition, I would recommend including testing algorithms for the clinical laboratory work -up of patients suspected of mitochondrial disease. Laboratory testing procedures, interpretation, and pitfalls would be a useful addition, and make the book an even better resource for the practicing clinician.