Edited by Salvatore DiMauro, Michio Hirano, and Eric A. Schon. 348 pp., illustrated. Abingdon, England, Informa Healthcare, 2006. $229.95. ISBN 1-84214-288-7.
Rolf Luft described the first case of mitochondrial disease in 1962, and for more than 25 years, disorders affecting the "batteries" of the cell were confined to research papers and neurology grand rounds. The sequencing of the mitochondrial genome and the recognition in the 1980s that defects of this genome cause disease sparked new interest in these disorders, but for many physicians, mitochondrial diseases still remained at the bottom of a long list of differential diagnoses. However, owing to a combination of clinical, epidemiologic, and molecular advances, all physicians now have to be aware of the clinical problems caused by dysfunction of this organelle.
Mitochondrial Medicine offers the first comprehensive description of the clinical importance of mitochondrial dysfunction in all branches of medicine. As such, its chapters trace the evolution of mitochondrial diseases, from an extremely rare group of neurologic disorders with almost uninterpretable acronyms to a group of diseases that all doctors and medical students should know about.
Mitochondria are the products of two genomes (mitochondrial and nuclear), and the biochemical mechanisms involved in the generation of ATP are extremely complex. This book largely (and sensibly) ignores these issues; for those interested in biochemistry and genetics, there are many good reviews. What this book does superbly is bring together all the clinical aspects into one much-needed resource. The book is edited by experts in the field and is both up-to-date and comprehensive.
The editors, who contributed a number of chapters themselves, have brought together a knowledgeable collection of clinicians. The result is a very good reference for both seasoned and new clinicians wanting to learn about mitochondrial disease. Inevitably, the amount of detail varies among chapters, which reflects in part what is known about mitochondrial aspects of particular organ diseases. This variation ranges from extensive details presented in the inclusive chapters on neurology and cardiology to information in a chapter on psychiatric disorders and mitochondrial diseases that is largely anecdotal. Patients with mitochondrial diseases in whom several organ systems are involved are difficult to care for and are often dependent on a multidisciplinary team.
This excellent book should become the definitive resource on clinical aspects of mitochondrial diseases. I suspect, however, that this field will be rapidly evolving, so the editors should be aware that they have started a long project that will require many updates in the future.
D.M. Turnbull, M.D., Ph.D.
Newcastle-upon-Tyne NE2 4HH, United Kingdom