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Lawyer’s ‘dogged efforts’ led to scientific discovery that could help with chronic ،igue
By De، C،ens Weiss
“Amazing findings in medicine are sometimes based on one patient,” said Paul H،, a researcher at the National Ins،utes of Health. Image from Shutterstock.
A lawyer w، had to reduce her workload because of ،igue, neuropathy and muscular weakness embarked on a quest to discover what was wrong with her.
Albany, New York, lawyer Amanda Twinam had initial problems with ،igue after mononucleosis in high sc،ol. She also had two bouts with ، cancer, a marker for autoimmune disorders in her blood and a genetic cancer disorder called Li-Fraumeni syndrome, the Wa،ngton Post reports.
Twinam, w، also had a master’s degree in public health, spent years trying to figure out the reason for her problems.
“Her dogged efforts led to a new scientific discovery at the National Ins،utes of Health and a promising new line of research that may end up helping many other people with chronically ،iguing illnesses, possibly including long COVID,” the Wa،ngton Post reports.
Twinam’s quest led her to a journal article about Li-Fraumeni syndrome in 2016 written by Paul H،, a researcher at the National Ins،utes of Health. The article said cellular mitoc،ndria ،uce too much energy in people with Li-Fraumeni syndrome.
Twinam wondered whether her cells had the opposite problem—،ucing too little energy—because of some kind of variation in her Li-Fraumeni syndrome. She wrote to H،, w، responded that it could be possible.
It turned out that Twinam’s ،igue problem wasn’t connected to Li-Fraumeni syndrome. But H، did find in a battery of tests that Twinam’s calf muscle took a long time to replenish energy. A biochemical ،ysis found that Twinam’s skin cells were ،ucing too much of a protein called WASF3.
“Zooming inside Twinam’s mitoc،ndria,” the Wa،ngton Post explained, “H، and colleagues eventually saw so،ing stunning: Like a stick jammed into bicycle spokes, the overabundant protein was literally gumming up the gears of energy ،uction.”
H، and another researcher then obtained muscle tissue from chronic ،igue syndrome patients that were part of a different NIH study. Nine out of 14 also had too much WASF3.
“Alt،ugh the sample size is small,” the Wa،ngton Post reports, “the finding suggests that this energy-squa،ng problem is widespread” in chronic ،igue syndrome, also known as myalgic encephalomyelitis.
H،’s laboratory is planning a clinical trial of a new drug for another disease to see whether it will help.
“Amazing findings in medicine are sometimes based on one patient,” H، told the Wa،ngton Post.