UW-Madison researchers have found a new way to potentially treat Friedreich’s ataxia, a rare, fatal and currently untreatable disorder.
Aseem Ansari, a professor of biochemistry and genomics at UW-Madison and leader of the research team that made this discovery, says this method represent a “new precision-tailored path to personalized medicine.”
Friedreich’s ataxia afflicts 1 in every 50,000 people, according to Ansari. That’s equal to about 115 cases in Wisconsin.
The disorder is caused by stretches of repetitive DNA in an individual’s genetic code which prevent the creation of an important energy-processing protein.
“These kids accumulate repeats in a gene for a protein called frataxin that mitochondria, the cell’s powerhouse, need to process energy. Without frataxin, tissues that use the most energy get hurt first: the brain, heart and pancreas,” Ansari says.
According to Froedtert and the Medical College of Wisconsin, a wide array of symptoms like tiredness, slurred speech, difficulty walking, loss of key senses like vision and hearing, and others can occur between ages 5 and 15, though some do crop up later in life.
“Most young people with Friedreich’s develop severe heart problems and are wheelchair-bound,” he added.
Ansari’s research team created a prototype molecule that helps the DNA-decoding machinery of the cell to do its job — creating the frataxin protein — without getting tripped up by the repeats in the genetic code.
Ansari says the disease is so rare that few drug companies invest in fighting it, but the Wisconsin Alumni Research Foundation has applied for two patents on this discovery. Ansari says it could be applied to other genetic conditions like Fragile X syndrome.
“Now that we are starting to understand how to defuse these repeats, we see this as a general solution, a molecular engineering principle,” he said. “We would sequence the genome and figure out the problem, and make a molecule tailored for that individual.”
Though Ansari is confident about future application of this discovery, he warns that even early-stage testing of the treatment on humans is several years off.
–By Alex Moe