For Nobuaki Nagashima, whose body started deteriorating when he was in his mid-20s, there's one question that's always at the top of his mind: "Why do I have this disease?" The disease in question is Werner syndrome, or "adult progeria," a rare disorder that causes the human body to age more quickly than it should, with an average life expectancy of just 55. Writing for Digg, Erika Hayasaki examines this condition, which is seen only in about 1 in 200,000 people in the US. In the case of Nagashima—who's now 43 but with the body of an 80-year-old—it has meant cataracts, hip replacements, significant weight loss, and difficulty moving about. Others also see symptoms such as balding, wrinkles, and prematurely gray hair, as well as diseases such as diabetes and cancer. Werner syndrome is caused when a patient inherits two mutated copies of the MRN gene, one from each parent.
But it's the chemical marks that show up on these genes—marks that have the power to amplify or shut down a gene's activity—that Hayasaki is interested in, because individuals with Werner syndrome seem to have more of these marks than control subjects without Werner. The big question Hayasaki poses is this: Are these marks left by disease and aging, or are they somehow tied to the cause? Because if it's the second option, that offers potential to remove them and stave off, or maybe even reverse, aging diseases like Werner syndrome. Scientists are also trying to confirm why there's a prevalence of Werner patients both in Japan and on the Italian island of Sardinia; they think it might have to do with populations in isolated areas reproducing with people similar to them genetically. In the meantime, as he awaits answers, Nagashima has one message: "Gambatte." That means, "I will endure." More on Nagashima's illness here. (Read more Longform stories.)