Study illustrates links between DNA repair and a rare neurodegenerative disease


Depiction of the double helix structure of DNA. Its four coding units (A, T, C, G) are color coded in pink, orange, purple and yellow. Credit: NHGRI

Researchers at the Francis Crick Institute have summarized genetic and molecular changes that lead to a rare progressive neurodegenerative condition called ataxia with eye movement apraxia 2.

Ataxia with apraxia 2 (AOA-2) is a rare progressive neurodegenerative condition. The disease is usually caused between 7 and 25 years, causing problems with muscle and eye movements and is the leading cause of disability.

This is caused by a mutation in the SETX gene that affects the production of an enzyme known as senataxin.Although this enzyme is known to be important in repairing and maintaining DNA damage, genome Stability, the exact mechanism of what happens when this enzyme does not function properly, is not yet understood.

In their study, Minutes of the National Academy of Sciences, Scientists performed whole genome analysis cell Collected from AOA-2 patients and human and mouse cell lines that did not produce senataxin because it was genetically edited to remove the SETX gene.

Removal of harmful loops

During the process of replication and transcription, sections of DNA are copied. In both cases, the molecule needs to move along the DNA. It is not uncommon for these transcription and replication mechanisms to collide, pausing the process and leading to the formation of loops within the DNA called R-loops.

Researchers have discovered that senataxin plays an important role in eliminating these loops. As a result, transcription and DNA copying can continue correctly. Senataxin does this by melting the R-loop so that it does not interfere with these important processes. Without senataxin, DNA damage accumulates, causing cell instability and death.

Radhakrishnan Kanagaraj, lead author and former postdoctoral researcher at Crick’s Institute for DNA Recombinant Repair, said: Relying on other methods increases the likelihood of DNA damage and errors during the copying process. “

Stephen West, Group Leader, Crick’s Institute for DNA Recombinant Repair, said: “The importance of senataxin in this disease has long been established, but it is a patient to see how the lack of properly functioning senataxin affects DNA replication and transcription.

“ALS, Other Neurological Disorders, Including Tremor-Ataxia Syndromes, autosomal dominant proximal spinal muscular atrophy, and Charcot-Marie-Tooth disease are also associated with mutations in the SETX gene. Therefore, future research may lead to more valuable insights into the relationship between this gene and the disease. ”

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For more information:
Radhakrishnan Kanagaraj et al, integrated genomic and transcriptome analysis reveals the mechanism of genomic instability in ataxia with apraxia of eye movement 2. Minutes of the National Academy of Sciences (2022). DOI: 10.1073 / pnas.2114314119

Quote: Studies show a link between DNA repair and rare neurodegenerative diseases (January 20, 2022).

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