Impaired DNA Repair and the Associated Complications

Huntington's disease – an inherited, neurodegenerative disorder, that causes muscular atrophy and impairs co-ordination and balance. The condition is associated with genetic mutation that imposes a DNA defect. Researchers are now studying mechanisms of DNA repair failure and mutation to gain insight into such conditions. 

Catherine Freudenreich and her colleagues at Tufts University has shed light on how natural DNA repair processes can fail, leading to mutations and disease. The findings suggested that DNA sequences can create branching structures that pose barriers to replication and repair, resulting in errors in the genome. These observations suggest that DNA fragility can occur near other sequences that make the DNA form branched twists, which could lead to mutation hotspots that result in cancer or other conditions of aging. 

The researchers also identified key proteins involved in the repair process and their effects on DNA fragility, which could lead to new therapeutic strategies for treating diseases caused by DNA mutations.


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