BOSTON — Researchers are making strides in unraveling the enigma behind Huntington’s disease, a debilitating and fatal hereditary condition that impacts people in their prime. This disorder causes the degeneration and death of nerve cells in specific brain regions.
Although the genetic mutation responsible for Huntington’s has been known for some time, scientists have long puzzled over why individuals with the mutation from birth often exhibit no symptoms until later in life.
Recent studies reveal that the mutation remains benign for decades. However, it gradually enlarges until it surpasses a critical threshold, at which point it begins to produce harmful proteins, leading to the death of affected brain cells.
“The puzzle in our field has been why a genetic disorder manifests later in life despite being present from conception,” remarked Dr. Mark Mehler, director at the Institute for Brain Disorders and Neural Regeneration at the Albert Einstein College of Medicine. He praised the research as a “landmark” study, addressing persistent questions in the field.
As brain cells die, individuals experience difficulties with movement, cognition, and behavior. Symptoms like involuntary movements, unstable gait, personality shifts, and poor judgment typically manifest between ages 30 and 50, progressively deteriorating over 10 to 25 years.
The study, conducted by scientists from the Broad Institute of MIT and Harvard, among others, examined brain tissue from people with Huntington’s and those without. They scrutinized a specific gene with a DNA segment where the sequence CAG repeats at least 40 times in individuals with the disease, compared to 15-35 times in those without. Over time, these repeats can expand significantly, reaching a tipping point where neurons begin to die.
The findings indicate that these DNA stretches grow slowly in the first two decades but accelerate once they reach 80 CAGs. Researchers aspire that their discoveries might pave the way for new strategies to delay or even prevent Huntington’s, offering hope to the 41,000 Americans affected.
Efforts to stop the DNA repeat expansion could potentially be more effective than current treatments, which only manage symptoms. While success isn’t guaranteed, McCarroll notes that many companies are now investing in these promising avenues.
Vocabulary List:
- Degeneration /ˌdɛdʒ.əˈnɛr.eɪ.ʃən/ (noun): The process of losing functional abilities or strength.
- Mutation /mjuːˈteɪ.ʃən/ (noun): A change in the DNA sequence of an organism.
- Manifest /ˈmænɪfɛst/ (verb): To display or show (a quality or feeling) by one’s acts or appearance.
- Cognition /kɒɡˈnɪʃ.ən/ (noun): The mental action or process of acquiring knowledge and understanding through thought experience and the senses.
- Neurons /ˈnʊrɒnz/ (noun): Cells in the nervous system that transmit information.
- Strategies /ˈstrætɪdʒiz/ (noun): Plans of action designed to achieve a long-term or overall aim.
How much do you know?
What is the primary focus of researchers in relation to Huntington's disease?
When do symptoms of Huntington's disease typically manifest in individuals?
What is the critical threshold that triggers the production of harmful proteins in Huntington's disease?
Which institute was involved in conducting the study on Huntington's disease?
What type of cells degenerate and die in specific brain regions in Huntington's disease?
At what point do symptoms of Huntington's disease start to progressively deteriorate?
Huntington's disease is a contagious condition.
Symptoms like involuntary movements and poor judgment are associated with Huntington's disease.
Dr. Mark Mehler is the director at the Institute for Brain Disorders and Neural Regeneration at Johns Hopkins University.
Efforts to stop DNA repeat expansion in Huntington's disease may be more effective than current symptom management treatments.
Researchers aim to find new strategies to delay or prevent Huntington's disease.
The DNA repeats in Huntington's disease grow rapidly in the first two decades.
The sequence CAG repeats at least times in individuals with Huntington's disease.
Symptoms of Huntington's disease typically manifest between ages 30 and .
The DNA repeats in Huntington's disease accelerate once they reach CAGs.
Efforts are being made to pave the way for new strategies to delay or even prevent Huntington's disease, providing hope for the Americans affected.
Dr. Mark Mehler praised the research on Huntington's disease as a "" study.
Huntington's disease causes difficulties in movement, cognition, and .
