Scientists are unraveling the mystery of what triggers Huntington’s disease, a devastating hereditary disorder that strikes in the prime of life.
President Joe Biden, center, with Vice President Kamala Harris, left, and Sec. of State Anthony Blinken, right, speaks in the Cross Hall of the White House on the announcement of a ceasefire deal in Gaza and the release of dozens of hostages after more than 15 months of war, Wednesday, Jan. 15, 2025, in Washington.
This microscope photo provided by the McLean Hospital's Harvard Brain Tissue Resource Center in January 2024 shows cells in the caudate nucleus structure of the brain in a person with Huntington's disease. This microscope photo provided by the McLean Hospital's Harvard Brain Tissue Resource Center in January 2024 shows cells in the caudate nucleus structure of the brain in a person with Huntington's disease.
“The conundrum in our field has been: Why do you have a genetic disorder that manifests later in life if the gene is present at conception?” said Dr. Mark Mehler, who directs the Institute for Brain Disorders and Neural Regeneration at the Albert Einstein College of Medicine and was not involved in the research. He called the research a “landmark” study and said"it addresses a lot of the issues that have plagued the field for a long time.
They focused on the Huntington’s mutation, which involves a stretch of DNA in a particular gene where a three-letter sequence – CAG – is repeated at least 40 times. In people without the disease this sequence is repeated just 15 to 35 times. They discovered that DNA tracts with 40 or more such “repeats” expand over time until they are hundreds of CAGs long. Once CAGs reach a threshold of about 150, certain types of neurons sicken and die.
“The longer the repeats, the earlier in life the onset will happen,” said neuroscience researcher Sabina Berretta, one of the study's senior authors. Recently, experimental drugs designed to lower levels of the protein produced by the mutated Huntington's gene have struggled in trials. The new findings suggest that's because few cells have the toxic version of the protein at any given time.
World News Science Health Sabina Berretta Steve Mccarroll
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