Chicago, Illinois — Maria Krasilnikova, a research assistant professor at University of Illinois at Chicago, is studying the underlying DNA replication of Friedreich’s Ataxia to help in the search for new drugs to treat the disorder.

In Friedreich’s Ataxia, the DNA sequence multiplies out of control. Friedreich’s is the most commonly inherited form of ataxia and causes progressive damage to the nervous system. It causes muscle weakness and loss of coordination in the arms and legs; impairment of vision, hearing and speech; scoliosis (curvature of the spine), diabetes; and a life-threatening heart condition. Average life expectancy is reduced to early adulthood.

Under a grant from the Friedreich’s Ataxia Research Alliance, Krasilnikova, whose field is biochemistry and molecular genetics, is studying the repeated guanine and two adenines (GAA) triplet of DNA that is responsible for Friedreich’s. Normally, people have between five to 33 GAA repeats within the FRDA gene. However, people with Friedreich’s may have this GAA stretch expanded up to 1,700 triplets.

"The goal of the research is to study how the expansion of GAA stretches occur by placing them in a chromosome of human embryonic kidney cells and watching them replicate,” said Krasilnikova. “Proving that faulty GAA repeats replication leads to expansion could, in the long run, boost the search for new drugs targeting repeats replication."

Krasilnikova believes that the results of her research may also apply to many other neurological diseases. Different genes are involved in many neurological diseases but many share a common underlying problem with DNA repeating out of control.

About FARA

The Friedreich’s Ataxia Research Alliance (FARA) is a 501(c)(3), non-profit, charitable organization dedicated to accelerating research leading to treatments and cures for Friedreich's Ataxia (FRDA) and the related sporadic ataxias. http://www.FAResearchAlliance.org

Contact

Maria Krasilnikova
(312) 413-1236
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Ronald Bartek
President, Friedreich’s Ataxia Research Alliance
(703) 413-4468
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