TV: Human Mutants
Authors: Graham Easton
Journal: BMJ (2004)

Full marks for the attention grabbing title. But I suspect that anyone looking forward to a Victorian style freak show would have been frustrated. Admittedly, Human Mutants does have most of the key ingredients—mysterious lighting, a spooky ringmaster, giants, dwarves, and babies in bottles. But for the voyeur craning his or her neck in the front row, all the serious science and compassion would get in the way. This is about how deformity reveals normality, and how we are all mutants—it's just that some of us are more mutant than others.

Our ringmaster, self confessed mutant Armand Leroi, is in fact a reader in evolutionary developmental biology at Imperial College, London. His series champions the contribution that the study of mutation has made to science's understanding of human development and evolution. In the first programme, “The Mystery of Growth,” he showed us how we grow and what happens when that complex growth mechanism goes wrong.​wrong.




Figure 1





Spooky ringmaster: series presenter Armand Leroi

Credit: CHANNEL 4




The opening sequence was an acknowledgement that the study of mutants has had a deeply dark side. It was a moody reconstruction of the moment in May 1944 when a family of dwarves, the Ovitz family, was herded into Auschwitz in a cattle car. Transylvanian Jews, they were saved from the gas chambers only to be experimented on by the “Dark Angel of Auschwitz,” Josef Mengele, who was obsessed with knowing why their limbs were so short and bowed. As the programme went on, we heard how Mengele bled them till they fainted, x rayed them, and carried out repeated gynaecological examinations on the women. All “brutal, fathomless experiments that were incapable of revealing anything about growth,” said Leroi.

The emphasis, though, was on the more fruitful—not to mention legal—aspirations of modern science. Leroi introduced us to Chris Greener, at 2.29 metres the tallest man in Britain. He seemed a jolly chap, chuckling at how children often pointed at him in supermarkets and said, “Look, Mum—there's a giant.” The science kicked in with a basic explanation of how Chris's overactive pituitary had made him so tall. By the 1940s, when Mengele was busy brutalising the Ovitz family, science had already established the role of pituitary hormones in growth.

In Cape Town, Leroi talked to some of the thousand or so people there who have Arnold's syndrome, which can leave them with bulging foreheads, pointed faces, holes in their skulls, and partial or absent clavicles. They are all descendants of one 19th century sailor called Arnold and we now know that they carry a mutation in a gene that “switches genes on and off in cells that make bone.” As one of Arnold's descendants pointed out, you can often spot other people with the syndrome in the street—a great way to keep in touch with the relatives.

There was a “macabre display” of fetuses in bottles (nothing that doctors won't have seen in the path museum) to introduce mesoderm, chondrocytes, and osteoblasts. We met a woman with the rare genetic condition fibrodysplasia ossificans progressiva (FOP), where bone growth replaces muscle, tendons, and ligaments. Leroi explained why our understanding of the role of bone morphogenetic protein in FOP could help thousands of people with bone disorders. And there was a fascinating account of the castrati, the male singers who lost their testicles before puberty. A modern mezzo-soprano described the castrato as the Jennifer Lopez of the 18th century opera halls. Castrati were a lot bigger than J-Lo, though—they became so huge because their bone growth zones stayed open because of a lack of testicular oestrogen.

Leroi's tour ended with a visit to a conference of the Little People of America, “where the West's dwarves come to meet and mate.” The Little People—with many of the 20 or so dwarf conditions such as achondroplasia, pituitary dwarfism, and pseudo-achondroplasia—told us why they didn't mind being called dwarves or little people, but midget was not acceptable. The scientific point was that in the past 10 years, the mutations responsible for nearly all forms of dwarfism had been identified. We even know, said Leroi, the very thing that eluded Mengele—why the Ovitz family were small. They had pseudo-achondroplasia, and the gene responsible was discovered by science 50 years after their Auschwitz ordeal.

Human Mutants is a brave attempt to explain what scientists and doctors know already: that science often learns from the limits of humanity. It is more a celebration of diversity than a freak show. The next two programmes are equally absorbing: “Making Babies” looks at the origins of order in the womb, including Cyclops babies and “real-life mermaids” (sirenomelia); and “Skin Deep” tackles issues of skin colour, race, and hairy-faced families. They could have called the series “The science of human development”—but I suspect that fewer people would watch it. And that would be a shame.