Friedreich's ataxia is a neurological disease for which there is currently no cure. It results from modifications to DNA sequences that prevent cells from producing enough of a needed protein called frataxin. The lack of frataxin can result in a variety of problems that include loss of muscle control, fatigue, vision or hearing impairment, slurred speech, and serious heart conditions.
Researchers at UT Southwestern Medical Center have identified synthetic RNA and DNA that reverses the protein deficiency causing Friedreich's ataxia. Using synthetic RNA or DNA, researchers have identified a way to allow normal frataxin production to resume.
Ataxia
Ataxia affects coordination. Gait becomes unstable and the patient loses balance. The cerebellum or its inputs and/or outputs are affected.
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‘By using synthetic RNA and DNA, the protein deficiency causing Friedreich's ataxia, can be reversed. It enables normal frataxin production to resume.’
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Dr. David Corey, Professor of Pharmacology and Biochemistry, said, "The synthetic DNA or RNA prevents the mutant sequence from bending back and blocking the frataxin gene. This action activates the frataxin gene, which then makes frataxin RNA and protein at normal levels. In addition, our approach is selective for targeting the frataxin gene FXN and does not affect other genes."
"In contrast to the CRISPR genomic editing technique, which requires modifications to genes, the molecules in this study are synthetic. The DNA and RNA belong to classes of molecules that already are being used clinically, making development of a new therapy more straightforward," said Dr. Corey, who holds the Rusty Kelley Professorship in Medical Science.
![Scientists Identify New Subtype of Ataxia]( "Scientists Identify New Subtype of Ataxia")
A new subtype of ataxia has been discovered by scientists. Ataxia is a rare disease without treatment that causes atrophy in the cerebellum and affects around 1.5 million people in the world.
"For use in Friedreich's ataxia, the remaining challenge will be to adequately deliver the synthetic molecules to tissues that are affected by the disease, but those challenges are being addressed by existing clinical programs targeting Huntington's disease and spinal muscular atrophy," Dr. Corey said.
About one in 50,000 people have Friedreich's ataxia, and typical onset is between 5 and 18 years of age, according to the National Institute of Neurological Disorders and Stroke. The disease is caused by cells making too little of the protein frataxin, although the proteins that are made are considered normal.
"The problem arises because of a mutation within the frataxin gene FXN that does not code for protein. In this case, the mutation causes the synthesis of a longer piece of RNA. This longer sequence binds the DNA and gums up the works, blocking RNA production needed to produce the frataxin protein," Dr. Corey said.
The findings appear in Nature Communications.
Source: Eurekalert
Scientists Identify New Subtype of Ataxia
A new subtype of ataxia has been discovered by scientists. Ataxia is a rare disease without treatment that causes atrophy in the cerebellum and affects around 1.5 million people in the world.
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"For use in Friedreich's ataxia, the remaining challenge will be to adequately deliver the synthetic molecules to tissues that are affected by the disease, but those challenges are being addressed by existing clinical programs targeting Huntington's disease and spinal muscular atrophy," Dr. Corey said.
About one in 50,000 people have Friedreich's ataxia, and typical onset is between 5 and 18 years of age, according to the National Institute of Neurological Disorders and Stroke. The disease is caused by cells making too little of the protein frataxin, although the proteins that are made are considered normal.
"The problem arises because of a mutation within the frataxin gene FXN that does not code for protein. In this case, the mutation causes the synthesis of a longer piece of RNA. This longer sequence binds the DNA and gums up the works, blocking RNA production needed to produce the frataxin protein," Dr. Corey said.
The findings appear in Nature Communications.
Source: Eurekalert
Deadly Ataxia Traced Through Exercise
It began when mice with a neurodegenerative disorder called spinocerebellar ataxia 1 (SCA1), were subjected to mild exercise.
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 Wayward DNA-repair Enzyme Implicated by Scripps Research Team in Friedreich's AtaxiaA step closer to understanding the cause of Friedreich's ataxia, a debilitating neurological condition has been taken by Scripps Research Institute scientists | Advertisement
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