New Study Finds Genetic Instability in Brain Cells as Key Trigger for Huntington’s Disease

According to a story from Medical Xpress, a recent study has determined that the onset of Huntington’s disease symptoms is triggered by genetic instability in a specific sequence of DNA found in brain cells. The researchers hope that this discovery will lead to more accurate predictions of when Huntington’s disease carriers could begin to display their first symptoms. More importantly, it could help lead to new procedures that could curtail onset of the disease entirely.

About Huntington’s Disease

Huntington’s disease is a heritable disorder that causes brain cells to die. This is a long term, progressive, and ultimately lethal disease that causes severe debilitation over time. The disease is caused by a genetic mutation that affects the HTT gene. It normally appears between 30 and 50 years, but in rare cases it can occur before age 20. Symptoms of Huntington’s may first appear as subtle mood and behavioral changes and loss of coordination. Other symptoms include random movements called chorea, abnormal posture, sleep issues, trouble chewing, swallowing, and speaking, dementia, anxiety, depression, and impulsivity. Nine percent of deaths are the result of suicide. Treatment for Huntington’s disease is symptomatic, with no cure or disease altering therapies available. Most patients die around 15 to 20 years after their diagnosis. To learn more about Huntington’s disease, click here.

Study Findings

These findings are coming at what could be a pivotal moment in the treatment of Huntington’s disease, as new experimental treatments for the disease are currently undergoing testing. The disease is linked to a mutation that causes repeats of a DNA sequence: CAG. The number of repeats can vary between patients; those with the greatest number of repeats tend to have earlier disease onset and more rapid progression. Previously, scientists thought that the number of repeats stayed the same in a patient’s life, but this study found that the number of repeats actually increases over time until a certain threshold is reached and symptoms begin.

The researchers also identified six different genes that impact the age of onset; these were all linked to DNA repair and maintenance and could be potential treatment targets.

Check out the original study, published in the scientific journal Cell, here.


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