The Death Gene
The tragic story of a muscle-wasting disease, the scientists who search for a cure and one mother’s struggle to save others from its deadly curse.
Pat Furlong recalls an idyllic childhood in Ohio. The only daughter to follow three sons, she remembers being treated like a princess. She grew up and married a doctor and thought she wouldn’t have a single problem in her life. Pat and her husband Tom soon started a family—and had four children: first, two daughters Jenny and Michelle, then two boys Christopher and Patrick.
Everything couldn’t have been more picture perfect—until she noticed her boys were not running like other children. The day Pat took them to an orthopaedic surgeon her world fell apart. Her two sons were diagnosed with a fatal genetic disease known as Duchenne Muscular Dystrophy for which there is no cure. Duchenne MD boys begin to show signs of muscle weakness from about three years of age. The disease first weakens the large skeletal muscles of the arms, legs and spine. By the time they are nine or 10, most sufferers are confined to wheelchairs. In their early teens, their heart and lungs become affected.
Pat Furlong was advised to go home and take care of her children. There was nothing she or anyone else could do to help and she should enjoy the remaining time she had with her boys. But, according to Pat, ‘It’s just not possible for you to tell a mother to go home and do nothing.’ A former emergency room nurse, Pat threw herself into trying to find a cure for her sons’ disease. She read all she could, and wrote to and called on every researcher in the field.
But the message was always the same. In 1984, Pat’s sons had no more chance of surviving Duchenne than if they had been born in the nineteenth century. The disease had been named by acclaimed French neurologist Guillame Duchenne, who described the classic features of the disease but could do nothing to cure them. One hundred and forty years later nothing much has changed.
A breakthrough came in 1986, when Harvard Medical School PhD graduate Lou Kunkel isolated the gene responsible for Duchenne MD. His discovery helped scientists to understand why Christopher and Patrick Furlong’s muscles were breaking down.
The Duchenne gene was responsible for making dystrophin, which is a protein found in every muscle. Dystrophin lies in the muscle cell membrane and its role is to hold the cells together, connecting the outer layer of the cell parts. Because boys with Duchenne MD do not produce dystrophin, their cell membranes tend to tear as their muscles move. Eventually, the muscles die and are replaced by fat and scar tissue.
Kunkel’s identification of the Duchenne gene solved one mystery that had long puzzled doctors. Most genes consist of 2000 base pairs. But the number of base pairs in the dystrophin gene is 2.5 million. Its massive size makes it highly susceptible to random mutation—which explains why many cases of Duchenne MD appear without warning.
Although not a cure, the discovery of the Duchenne gene did offer families a way to prevent the disease from devastating them again.