personal life
Lawyer’s ‘perseverance’ leads to scientific discovery that could help alleviate chronic fatigue
Paul Hwang, a researcher at the National Institutes of Health, said: “Astonishing discoveries in medicine sometimes come from one patient.” Image from Shutterstock.
When a lawyer has to reduce her workload because of fatigue, neurosis, and muscle weakness, she sets out to find out what’s wrong with her.
Amanda Twinam, an attorney in Albany, N.Y., initially developed problems with fatigue after contracting mononucleosis in high school. She also had two bouts with breast cancer, a hallmark of the autoimmune disease in her blood, and an inherited cancer called Li-Fraumeni syndrome, The Washington Post reported disease.
Twinham, who also has a master’s degree in public health, spent years trying to figure out the cause of the problem.
The Washington Post reported that “her persistent efforts have led to a new scientific discovery at the National Institutes of Health and a series of promising new studies that may ultimately help many others with chronic People with fatigue illnesses, which may include people with long-term COVID-19.”
Twinam’s exploration led her to a 2016 journal article about Li-Fraumeni syndrome written by National Institutes of Health researcher Paul Hwang. The article states that the mitochondria of cells in patients with Li-Fraumeni syndrome produce too much energy.
Twinum wondered whether her cells had the opposite problem — producing too little energy — because of a variant of her Li-Fraumeni syndrome. She wrote to Hwang, who replied that it was possible.
It turns out that Twinum’s fatigue issues are not related to Li-Fraumeni syndrome. But Huang did find in a series of tests that Twinam’s calf muscles took a long time to replenish energy. A biochemical analysis found that Twinam’s skin cells produced too much of a protein called WASF3.
The Washington Post explains: “Zooming inside Twinam’s mitochondria, Hwang and his colleagues ended up seeing something shocking: Like a stick stuck in a bicycle spoke, the excess protein was actually destroying energy. The gears of production.”
Huang and another researcher then harvested muscle tissue from chronic fatigue syndrome patients as part of a separate NIH study. 9 out of 14 people also had too much WASF3.
“Although the sample size is small, the findings suggest this energy-wasting problem is common in chronic fatigue syndrome, also known as myalgic encephalomyelitis,” the Washington Post reported.
Huang’s lab is planning a clinical trial of a new drug for another disease to see if it helps.
“Amazing discoveries in medicine are sometimes based on one patient,” Huang told The Washington Post.