Study by Tufts biologist provides window into progression of some degenerative diseases

an expanded CAG repeat sequence.

"We know this because when we used cells that were defective in the checkpoint proteins, there was a large increase in chromosome breakage at the expanded repeat. This means that cells with expanded repeats are particularly vulnerable and if their surveillance mechanism fails for any reason they will probably die. This is important because cell death is a hallmark of most of the CAG expansion diseases, leading to neurodegeneration in Huntington's disease and muscle degeneration in myotonic dystrophy."

Although some of the reasons for the degeneration are understood, activation of the checkpoint pathway is a possible contributor that wasn't recognized before.

In the study, the researchers also found that when some checkpoint proteins were absent, the CAG repeat became very instable, contracting at an increased frequency. This means the checkpoint status of a cell can influence repeat stability.

"This is interesting because it still isn't understood why the repeat doesn't change size in some cell types, but is very unstable in others," Freudenreich said.

For example, in Huntington's disease the repeat is prone to expansion during sperm development, which leads to inheritance of even longer repeats in the resulting children and a worsening of the disease in the next generation. The CAG repeat also expands further in the affected brain cells of patients, which could explain why those brain cells die first. So identification of factors that limit expansion, such as these checkpoint proteins, could be very useful in controlling the inheritance and severity of the repeat expansion diseases.

"Freudenreich's study is an example of the innovative genetic research being done at Tufts and it will have long-term impact on future understanding of the mechanisms responsible for genomic instability and their relationship with certain inherited diseases," said Susan Ernst, dean of the School of A

Contact: Siobhan Houton
Tufts University

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