Book Review

Mitochondrial Disorders in Neurology

N Engl J Med 1995; 332:276-277January 26, 1995

Article

Mitochondrial Disorders in Neurology
(Butterworth–Heinemann International Medical Reviews. No. 14.) Edited by Anthony H.V. Schapira and S. DiMauro. 254 pp. Boston, Butterworth–Heinemann, 1994. $75. ISBN: 0-7506-0585-5

Over the past 10 years, mitochondrial biochemistry and genetics have emerged as a subdiscipline with a focal position in medicine. Abnormalities of the mitochondria are most often neurologic in nature, but the diseases they cause are often multifaceted and heterogeneous, permeating all fields of medicine. As a result, it is critical for most physicians and scientists to have some degree of familiarity with mitochondrial function and dysfunction.

This is easier said than done, and we find mitochondrial biology one of the most difficult topics to deal with in both the classroom and the clinic. The complexity of mitochondrial biology arises from a series of structural and functional variables that are unique to the mitochondria: the genome that is distinct from our nuclear DNA, the inheritance of all mitochondria from the mother's egg, the individual metabolic threshold of each cell, the oxidative load on different types of cells as a function of age and the environment, the differential rates of replication of normal and mutant mitochondrial DNA, and so on.

This relatively short book does a very nice job of explaining all the variables. In 12 chapters averaging 20 pages each, the book describes each of the clinical disorders caused by or associated with mitochondrial defects, explains the expected molecular and biochemical findings, offers illustrative case histories, and covers prerequisite biochemistry and genetics.

Many leading authorities in the field contributed to the book. As with most compilations of chapters written separately, there is considerable heterogeneity in style and content. Indeed, this is a collection of highly informative, self-standing vignettes, rather than a truly unified book. Such lack of cohesiveness is often a weakness of such compilations, but mitochondrial science is actually well served by this style; readers can look up a chapter of interest and finish the 20 pages feeling that they have somewhat understood the topic. If readers require more detail on genetics or biochemistry, they can turn to the appropriate chapter and read on. There is considerable redundancy between chapters — for example, 5 of the 12 describe similar or identical genotype–phenotype correlations. However, individual chapters should appeal to various audiences; there are basic-science chapters on biochemistry and genetics (chapters 1, 2, 3, and 4), disease-specific or clinical chapters (chapters 5, 7, 8, 10, and 12), and historical chapters (chapters 6, 9, and 11).

There are some truly outstanding chapters, though those we have classified as outstanding are perhaps those that we learned the most from, and hence they may simply reflect our own backgrounds. Chapter 1, on the different respiratory-enzyme complexes, provides a wonderful summary of the proteins of the five respiratory-chain complexes and how those proteins get to their correct place in the cell. Chapter 3 is a practical discussion of diagnosis and genetic counseling that all neurologists and medical geneticists should read. Chapters 7 and 8 deal with important biochemical aspects of common disorders in a succinct and lucid style. Leber's hereditary optic neuropathy, a major cause of adult-onset blindness, serves as one of the primary teaching examples of the interaction of genes, proteins, and the environment in Chapter 10. We consider it required reading for all neurologists, ophthalmologists, and medical geneticists. The chief deficiency of the book is the lack of a “diagnostic tree” at any point. With an entire chapter dedicated to controversies in the field about diagnostic classifications, however, perhaps a clinically oriented flow chart containing symptoms and appropriate tests and diagnoses is too much to expect at this time.

This book will be a valuable addition to all medical libraries and libraries of academic neurology departments. Its title may inappropriately evoke indifference in other medical specialties, but this book will also be an important addition to libraries in the fields of medical genetics, molecular diagnostic methods, medical biochemistry, endocrinology, psychiatry, and gerontology. Its content may overlap considerably with that of larger and more comprehensive neurology, myology, or biochemistry textbooks, but at a small-format 258 pages, you can take this one home with you for the weekend.

Eric P. Hoffman, Ph.D.
Elena Pegoraro, M.D.
University of Pittsburgh School of Medicine, Pittsburgh, PA 15261

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