Insight into neurodegenerative diseases

April 18, 2016

In Freudenreich's study, the cell damage activated the Rad53 checkpoint kinase. But here, the protein arrested cell growth for an abnormally long period of time without repairing the damage. This often resulted in cell death.

In cases where the cell did manage to recover and keep dividing, the researchers observed an increased frequency of repeat expansions. "The cells that were having trouble growing and dividing due to the expanded repeat accumulated additional expansions. It became a vicious loop," says Freudenreich. She adds, "It will be important in the future to determine if this phenomenon is contributing to the cell death that causes the human diseases."

Myotonic dystrophy is an inherited condition that affects muscles and other body systems. It is the most common form of adult onset muscular dystrophy, with progressive muscle wasting as well as a variety of other symptoms.

Huntington's disease is a genetic disease involving degeneration of the central nervous system, leading to uncontrolled muscle movements, emotional instability and dementia. Folk musician and songwriter Woody Guthrie died from complications of the disease in 1967.

Source: Tufts University