Speak about ‘against all odds’ and Doug Whitney is the man the whole scientific community is thinking about. This 76-year-old from Seattle has genes that forecast Alzheimer’s, but his brain has other plans. Mr. Whitney, who is one of the few to inherit a rare genetic mutation, which guarantees the development of Alzheimer’s before turning 50. But Whitney is functioning fairly well, even two and a half decades after the ‘predicted’ genetic destiny.
The retiree, however, still stays in touch with eager scientists as he is the subject of superhuman research. Simply put, he is indeed a superhuman.
What is Alzheimer’s
Alzheimer’s disease is the most common form of dementia, a brain disorder that slowly destroys a person’s memory and thinking skills. 57 million people had dementia in 2021, according to the World Health Organization. Over 7 million Americans are living with Alzheimer’s, according to the Alzheimer’s Association. This number is projected to rise to nearly 13 million by 2050.Alzheimer’s leads to a loss of cognitive functioning, like thinking, remembering, and reasoning, along with behavioural abilities, to such an extent that it interferes with a person’s daily life and activities. Over time, Alzheimer’s patients lose their ability to perform simple daily tasks like eating or walking.
A family history of Alzheimer’s
Mr. Whitney comes from the largest family in the United States known to have an Alzheimer’s causing mutation. His family carries the Presenilin 2 mutation traced to German immigrants who settled near the Volga River in Russia in the 18th century. The mutation carriers usually show Alzheimer’s symptoms between the ages 44–53 and die within about a decade. But Whitney remains asymptomatic far past the expected age.His mother and nine of her 13 siblings, along with his oldest brother, all developed early-onset Alzheimer’s. They died in the prime of their lives. Whitney, however, is a scientific unicorn, and potentially the best answer to one of the world’s most devastating diseases. “Nobody in history had ever dodged that bullet,” he told The New York Times. While Whitney’s family was terrified as he turned 50, he remained calm and focused on enjoying life rather than fearing the inevitable.
Alzheimer’s escapee
Doug Whitney is referred to as the ‘Alzheimer’s escapee’ by the researchers. He was supposed to be ill. His rare genetic mutation guaranteed he would develop Alzheimer’s disease in his late 40s or early 50s and would likely die within a decade. But he hasn’t. Only two other individuals worldwide have avoided cognitive decline despite carrying early-onset mutations. Alzheimer’s happens when two proteins abnormally accumulate: amyloid and tau. Amyloid forms plaques decades before symptoms appear, while tau creates tangles after amyloid builds up. Tau is linked to cognitive decline. The researchers found that Whitney’s brain is full of amyloid plaques, more than other mutations carried in his family. However, tau accumulation is found in only one region of the brain, which affects visual-spatial functions but does not significantly impair cognition. Scientists hope to understand how amyloid accumulation was decoupled from tau pathology. This could pave the way for novel therapies.The scientists have identified several factors that may contribute to Whitney’s resilience. His DNA includes gene variants absent in afflicted relatives, some of which may influence neuroinflammation or tau accumulation. His immune system also shows lower inflammatory responses, which may protect his brain.The researchers also found that he has unusually high levels of heat shock proteins, which help prevent misfolded proteins from spreading. They suspect his decade working in the engine room of Navy steamships, enduring extreme heat, may have contributed to this protective effect.
