Mutants: On Genetic Variety and the Human Body

Despite being the repository of many of my family's variant genes, I can't complain - I am a fully functional human being. That said, the fact that I am the first known case of inherited intermittent vertical nystagmus [at least that's what the doctors said at the time of my birth] has given me an above average interest in the genetics of human beings. Armand Marie Leroi's Mutants is an excellent introduction to genetic variety in human beings. Mutants could have been turned into a freak show by a lesser writer or one with the desire to titillate, but Leroi handles the subject directly and with the right level of sensitivity. In the introduction, Leroi demystifies the word mutant and concludes the chapter by saying We are all mutants. But some of us are more mutant than others.I especially enjoyed the fact that I was finally able to understand the genetics of my aunt's 6th toe and the fact that Leroi uses redheads to explore the boundary between mutation and polymorphism [I'm okay with the fact that being a redhead makes me a mutant].Despite the way Leroi handles the material, this is not a book for the squeamish. The black and white illustrations may be disturbing to some readers. I think the perfect reader for this book would be a person with the background from a 9th grade biology class and an interest in learning more about human genetics. People with an interest in history and the process of doing science should also find much of interest in Mutants.

You are a mutant, and you have been since before you were born. You probably have three hundred mutations in your genes that impair your health in some way. Of course, that leaves a huge number of genes to correct any problems, and most of us don't look as if we stepped out of the X-Men comic books. "We are all mutants. But some of us are more mutant than others," says the evolutionary biologist Armand Marie Leroi in _Mutants: On Genetic Variety and the Human Body_ (Viking). Leroi takes a review of human mutations based on the wonderful principle that we get to understand how nature normally works by carefully examining abnormalities; when things go wrong, we know that there must be some important process going right most of the time. So there is extensive evaluation here of strange-looking humans, often with nightmarish defects. Amply illustrated, the book has engravings from centuries past to show that humans have always had a curiosity about such beings. Leroi's intellectual interest is far from morbid, however, and his lessons drawn from the monsters here are humane and increase our admiration for how often things go right, and how often those who were dealt a bad genetic hand can still play it well.For example, Carl Herman Unthan was a violin virtuoso by age twenty, although he had no arms. Of course, not all such mutants are so successful. Harry Eastlack had a defect that told his body to make bone whenever it made any repair, so that bruises and tears would turn into bone, not healed flesh. The stillborn babies here are strange indeed. One has a second developed mouth in its forehead. Another child was born with over twenty half-developed fetuses in his brain. The book, however, is far from a chamber of horrors. Even the most bizarre of the mutants do show us things about the process of becoming and being a human creature. Conjoined twins, for instance, are closely examined here in many ways for many lessons, like how our developing bodies can know left from right. The deformities in limbs show the importance of embryonic limb-buds, a signaling protein called "sonic hedgehog," and "hox" genes that are the same ones that help keep our vertebral segments orderly. The same hox genes work to make the segments in worms. Leroi writes of the "breathtaking similarity" living creatures have in such arrangements, as evolution has built variations on the same basic plan. "We are, in many ways, merely worms writ large." There are pygmies and dwarfs here, and giants, and men / women of intermediate sex, albinos, piebalds, cyclopes, and families covered all over in hair. There is natural curiosity about such "monsters," but Leroi shows there needs to be more. They are all products of molecules gone wrong, molecules we can now detect and understand, to better appreciate how molecules go right in the unimaginably complicated dance that creates organisms. There is a fascinating chapter near the end to show that perhaps ageing and dea

This witty and humane book has managed to avoid the pitfalls so commonly associated with work in this area. Dr Armand Marie Leroi does not seem to have an axe to grind. The reader is spared political lectures on genetic diversity. This is a book that can be read by those on either side of the genetics debate without being dismissed as overly prejudicial. Dr Leroi's particular achievement is that he has managed this feat without loss of seriousness or respect for his subject. The book revolves around the case histories of individuals with genetic abnormalities. Dr Leroi does not pretend that these individual's lives were enhanced by their deformities, rather he uses their lives as an illustration of genetics in action, warts and all, and usually much more than warts. While one may marvel at the courage of some of those people depicted, one is nevertheless left with a keen sense of sadness for them and for the uncomprehending world in which they lived. Theirs were unusual lives. They were unusual in having been both hidden and recorded, repellent and absorbing, freakish and yet in many ways profoundly ordinary. Dr Leroi handles these dichotomies dispassionately, respectfully and above all, expertly. This is a warm, endearing book on a topic which might easily have been neither.

I have to admit to a little voyeurism when it comes to the odd, and Armand Marie LeRoi's book Mutants does have a bit of a side show aspect to it. What it really intends is to show how science discovers how things work--or in this case fail to work--in human anatomy-physiology. Now that the human genome project has crunched out the raw data on what our DNA code is, it has become the far more daunting task of biologists to figure out what it says and how it works. The best way to do that would be to screw up specific sites on the gene and see what happens. This is how they learn what the DNA of lower orders does, but humans aren't like fruit flies; we don't live our lives in a matter of days. Nor are we like amoeba or worms; our genetics are much more complicated and the interactions among them probably orders of magnitude greater than those for the "simpler" animals. Most important, screwing up the genetics of a human subject is not exactly, ethically or morally speaking, a good place to go! That leaves us with natural genetic failures, those individuals who have suffered genetic misprints that can lead to clues about what normal DNA does. This is what chapter one explains in some detail.The remaining chapters illustrate what is learned from specific mutations: twinning, how and from what parts of the body arise, how things grow, how gender develops, how skin differences occurs, and why aging happens.Since many of the mutant individuals discussed are historic figures, some of the bibliographic entries are quite old. While there are some books, most of the entries are those of modern scientific journals: American Journal of Medicine, Annals of Human Biology, Developmental Biology, Nature, Proceedings of the National Academy of Sciences, Science, etc. Most of these are very current, many from the late 1990s. For the interested follower of the subject, some of these might be difficult to find unless there is a university library at your disposal. FOR THOSE WRITING PAPERS: IN SCIENCE OR IN THE HISTORY OF SCIENCE: The book might illustrate how scientists can approach a problem without offending the ethics of the society of which it is a part. One might also check some of the old texts to find material that would illustrate other types of genetic problems and describe how this might be of help to geneticists. One might describe the current issues regarding cloning using this book as a reference. One might write a paper that showed how the efforts of scientists and medical doctors of the past to publish new information in their times have helped scientists decades, even centuries later. IN THE ARTS, HISTORY, ANTHROPOLOGY, SOCIOLOGY: One might show how art has captured information that is pertinent to scientific work today, or discuss how the mutant individual fit into his/her particular society. (Please note that James Merrick is one of those discussed and that there are several biographies and a play based on his life.)An interes

Armand Marie Leroi's MUTANTS is a delightful mixture of historical anecdote, philosophy, artistic allusions and serious science, all served up with a first-person narrative voice that is both sympathetic and learned. Despite the bizarre and often gruesome subject matter used to illustrate scientific principles governing the formation of the human body, we are guided through the spectrum of human abnormality with a respectful hand. Although at times Leroi is amusing, he never ridicules the mutant humans he discusses - if anything, it is the scientists, anthropologists and historians who have misunderstood or abused their odd subjects that receive the well-timed onslaught of his wit. And yet even some of these jibes are sympathetic: the wise men of old were fumbling around in the dark and did not have the benefit of our knowledge or modern morals, so Leroi is gracious enough at times to excuse them, when other authors might be stern and judgmental. Even the horrific spectre of the Nazi doctor Josef Mengele is portrayed in a multi-faceted light; Leroi does not condone or excuse his acts, but he does attempt to understand his motivations. It is a delicate balancing act that the author pulls off beautifully in most cases.If you want to learn something about the genetics of human development, the explanations are clear and logical, with enough analogies and examples to help you along. The reference section is vast, so you know where to turn for more gory (so to speak) details. If, however, you'd rather just sit back and enjoy the historical anecdotes, the structure of the book makes it easy for you to skim through the scientific stuff - which does not ramble on too long - and the section headings help you pick and choose your area of interest. Although the information about deformities is certainly engaging, I found myself most captivated by the final chapter on race and beauty (don't be fooled into skipping it because it's called an `epilogue' in the table of contents). Leroi makes a good case for the importance of studying the genetics of race, a topic that is not only politically incorrect, but potentially explosive. Why, he asks, should scientists know in excruciating detail the genetic underpinnings of snail shell colour variation yet have absolutely no clue why the Chinese have curved eyelids or the Eskimos, high cheekbones? In answer to the usual rebuttal, that studying race leads to discrimination, Leroi argues, quite successfully, that it is in fact our residual ignorance that gives would-be racists a welcome loophole. And as for his thoughts on beauty, the ideas are fascinating and should be of interest to us all. It's worth reading the book for the last paragraph alone.