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There’s a rare condition that makes people age rapidly–but it could help us slow aging

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01.06.2019

Nobuaki Nagashima was in his mid-20s when he began to feel like his body was breaking down. He was based in Hokkaido, the northernmost prefecture of Japan, where for 12 years he had been a member of the military, vigorously practicing training drills out in the snow. It happened bit by bit–cataracts at the age of 25, pains in his hips at 28, skin problems on his leg at 30.

At 33, he was diagnosed with Werner syndrome, a disease that causes the body to age too fast. Among other things, it shows as wrinkles, weight loss, greying hair, and balding. It’s also known to cause hardening of the arteries, heart failure, diabetes, and cancer.

I meet Nagashima under the white light of a Chiba University Hospital room, around 25 miles west of Tokyo. A grey newsboy cap covers his hairless head freckled with liver spots. His eyebrows are thinned to a few wisps. Black-rimmed glasses help with his failing eyesight, his hip joints–replaced with artificial ones after arthritis–ache as he stands to slowly walk across the room. These ailments you might expect to see in an 80-year-old. But Nagashima is just 43.

He tells me that he has been in and out of the hospital ever since his diagnosis. That his deteriorating health forced him to leave the military. Nagashima has had five or six surgeries, from his toes to hips to eyes, to treat aging-related ailments. He’s lost 15 kilograms since he was first diagnosed. He needs a walking stick to do a distance over a few meters, and has a temporary job at the City Hall, going to the office when his body will allow but working from home when it doesn’t.

He remembers driving home after his diagnosis, crying to himself. When he told his parents, his mother apologized for not giving birth to a stronger person. But his father told him that if he could endure this disease, he was indeed strong, and maybe scientists would learn from him, gaining knowledge that could help others.

Apart from the X and Y sex chromosomes, we inherit two copies of every gene in our bodies–one from our mother and one from our father. Werner syndrome is what’s called an autosomal recessive disorder, meaning it only shows when a person inherits a mutated version of a gene called WRN from both parents.

Nagashima’s parents are aging normally. They each have one functional copy of WRN, so their bodies don’t show any symptoms of the disease. But he was unfortunate to have received two mutated copies of WRN. His grandparents are still alive and as well as one might expect for a couple in their 90s, and the family are unaware of any other Werner cases in their family history.

WRN was discovered only in 1996, and since then there have been few examples of Werner. As of 2008, there were only 1,487 documented cases worldwide, with 1,128 of them in Japan.

Lest this seem like a uniquely Japanese condition, George Martin, co-director of the International Registry of Werner Syndrome at the University of Washington, thinks the number of actual cases globally is around seven times higher than the numbers recorded today. He says most cases around the world will not have come to the attention of any physicians or registries.

The huge imbalance in Japanese cases he puts down to two factors. First, the mountains and islands of the........

© Fast Company