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American Journal of Medical Genetics 75:231–232 (1998)
Book Review
THE HISTORY OF A GENETIC DISEASE:
DUCHENNE MUSCULAR DYSTROPHY OR
MERYON’S DISEASE.
By Alan E.H. and Marcia L.H. Emery
Royal Society of Medicine Press, London, 1995,
248 pp+ XVIII.
The story of muscular dystrophy is told with loving
attention to details from a biologic/scientific and biographical perspective by Alan and Marcia Emery in
this volume published by the Royal Society of Medicine
Press. The addition of the second author may have occurred after beginning this project, since, in at least
two places, the text refers to ‘‘the author (AEHE).’’ Be
that as it may, their collaboration resulted in a fascinating account. John Walton wrote the Foreword; in it
he states: ‘‘. . . it was originally my intention to skim
through the pages . . . and to write an account based
largely upon my personal knowledge of the subject and
of the authors.’’ And after comparing many a book and
its reviews, it is evident that in fact the latter are frequently written in this manner. However, as a journeyman historian and compulsive pedant, my problem is
not failing to read with loving attention to details from
cover to cover, but finding the time to do so. And in this
case, once the opportunity offered itself (at last), I had
the same experience as Walton who recounts ‘‘. . . that
once I began to read, I found that this historical account dealing successively with the earliest history of
muscular dystrophy, refinements of its clinical picture,
heterogeneity and nosology, and moving on to . . . biochemistry, pathogenesis and the molecular genetics of
the disorder, gripped me from the beginning so that in
the end I could not resist continuing to read on and on.’’
Readers are forewarned to expect a similar experience, most likely a sleepless but highly stimulating
night, after which they will be well prepared for a review of the events since publication and for the daily
advances in the pages of scientific and lay publications.
In one way or another, the many firsts in this story are
paradigmatic of the history of every genetic disease and
the difficulty of historians attempting to assign relative
weight to the importance for subsequent developments
in the field of contributions by early observers and pioneer investigators. In general, it is true the earlier the
contribution, the more likely it was by a single person
or a few individuals impressed with a local singularity
lacking an obvious causal/pathogenetic explanation in
the contemporary tableau of medicinal or biologic
knowledge. Frequently, these early pioneering insights
and reports seem to have an almost random, stochastic
nature, reported, as they may be, in local publications
and destined in many cases for obscurity unless fitted
into a larger picture by someone with a more comprehensive agenda (i.e., Darwin’s use of early examples of
mendelian mutations in The Origin of Species), or res© 1998 Wiley-Liss, Inc.
urrected later by historians working backwards on a
given story (as in this case). The more recent the contribution, the more likely it is to involve more than one
individual, working collaboratively in more than one
country, using more than one approach to get at cause
and pathogenesis in a more or less competitive manner.
The story of muscular dystrophy as recounted in this
book illustrates the phenomenon well, and the authors
are to be congratulated at succeeding so admirably at
interweaving biology and biography.
The many ‘‘firsts’’ alluded to above include: 1)
‘‘. . . the first X-linked disease to be reported in a female
with XO Turner syndrome’’ (Walton, 1956), 2) successful application of discriminate analysis by Chung and
Morton (1959) ‘‘to resolve . . . genetic heterogeneity in
muscular dystrophy’’; 3) equally successful first application by Murphy (1966) of Bayesian statistics to calculate recurrence risks in X-linked muscular dystrophy; 4) first RFLP (DXS9) linkage to a disease of unknown biochemical defect by Murray et al. (1982), with
subsequent application to genetic counseling (1983)
and prenatal diagnosis (1985); 5) unprecedented identification of the gene product dystrophin by molecular
genetic techniques alone without ‘‘prior knowledge as
to its basic cause’’ (Hoffman et al., 1987). To my knowledge, the DMD gene remains the largest discovered to
date in humans. To those of us in medical genetics who
have cared for numerous patients and families with
various forms of muscular dystrophy over several decades, this progress from care based on purely clinical
skills (and compassion) to the era of counseling assisted with biopsies, EMGs, and serum enzyme levels
to the incorporation of Bayesian approaches into counseling, to the present molecular era is also paradigmatic of the overall development of medical genetics
and is a source of greatest satisfaction. In Chapter 13,
the book ends with a perspective on prevention, treatment, and the future, topics which have become at the
very least more accessible to discussion (i.e., how to get
into every skeletal and cardiac muscle cell in the body
or to get them to produce normal dystrophin) on the
basis of current knowledge. The authors speak of the
engineering of a novel (viral) vector that specifically
targets each muscle and conclude that ‘‘. . . there is
much more optimism for finding an effective treatment
than at any other time in the history of Duchenne muscular dystrophy.’’ Wish that I could share such optimism and extend it to all muscular dystrophies, but
must confess that at the moment that seems a virtually
inconceivable task. But then, I’m not an Eric Hoffman
nor Ron Worton nor Lou Kunkel. . . .
Between Lord Walton and Chapter 13, the authors
spread before us an extraordinary panoply of persons
and events and their medico/cultural settings on three
continents and in 12 chapters of introduction; early history dealing primarily with Charles Bell, Gaetano
Conte, Richard Partridge, and William J. Little (whose
232
Opitz
clubfoot apparently was due to poliomyelitis and not
Little disease); Edward Meryon’s contribution . . . ; a
biography of Meryon; Duchenne ‘‘de Boulogne’’; ‘‘refining the classical picture’’; resolution of heterogeneity;
nosology; biochemistry and carrier detection; pathogenesis and search for the gene (actually one of
many . . .).
As a faculty member of a history department, I do
care and rather passionately, I must confess, about historiography. Over the years, I have also developed an
enormous respect and appreciation for serious nonprofessionals who, with great effort, have made and are
making major contributions to our historical understanding of a specific aspect of medical biology. As
such, this history of muscular dystrophy (sensu lato) is
a major accomplishment and is highly recommended to
all medical geneticists with an interest in ‘‘progress’’ in
our field. As medical geneticists, we may not be masters of the methodology of historiography, but we do
know the field and we do know the compellingly interesting stories. And the one about the muscular dystrophies is such an interesting story. A German or French
scientist will have written the story quite differently;
nevertheless, the elucidation of Edward Meryon’s role
in this story and of his life is highly interesting and
makes for compelling reading which I allow the readers
to discover for themselves. Along the way the reader
will be quite moved by Meryon’s origins and Potain and
Charcot’s faithfulness to their master after Duchenne’s
stroke; amazed and charmed by Duchenne’s pioneering
contributions to medical photography and the needle
biopsy of muscle; Gower’s enthusiasm for medical
shorthand, botany and mosses, etching and engraving;
Gower’s 1908 presentation of his (X-linked) cases at a
meeting attended by Bateson, and so much more. I
doubt the authors will succeed in renaming DMD
‘‘Meryon’s disease,’’ but their enthusiasm for the subject and the effectiveness of their scholarliness and presentation make this a most enjoyable and valuable
book.
John M. Opitz
Primary Children’s Medical Center
University of Salt Lake City
Salt Lake City, Utah
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