somatic expansion
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Stopping C-A-G Repeat Expansion In Its Tracks
A new study shows that lowering MSH3, a key DNA repair protein, with antisense oligonucleotide (ASO) therapy can stop CAG repeat expansions in HD patient-derived brain cells. This could be a promising way to slow symptom onset and progression.
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Knockouts for the win: how expanding CAGs drive disease
A recent paper links CAG repeat expansion with widespread RNA changes, especially in brain cells vulnerable to HD. āKnocking outā certain DNA repair genes that go awry in HD can have positive effects on features of HD in mice.
By Dr Leora Fox -
Steadying genetic stumble could help slow Huntington's disease
Using CRISPR technology, scientists uncovered genes that control C-A-G genetic stumbles in Huntington's disease
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New Insights Into Why Huntingtonās Disease Has Delayed Onset
A highly-anticipated scientific paper has landed! This new work challenges current theories in Huntingtonās disease research, uncovering how runaway CAG repeats erode cell identity in certain types of brain cells, leading to their death.
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Spotting HD Early: The Clues Hidden in Young Brains
Researchers have detected early changes in brain scans and biomarkers in young people with the Huntingtonās disease gene, 20 years before symptoms are predicted to appear. These findings could help develop medicines to treat HD earlier in life.
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Blue skies for Skyhawk: Positive news from Phase 1 trial for SKY-0515
Thereās more good news in the forecast in the Huntingtonās disease therapeutic space as we receive positive results from Skyhawk Therapeutics about their small molecule SKY-0515 that lowers huntingtin and targets somatic expansion.
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Two birds, one stone: HTT-lowering drugs also target CAG expansions
In a surprising twist, oral HTT-lowering drugs also slow somatic expansion in the HTT gene. A new study that used cells in a dish for this fortuitous discovery identified the gene PMS1 as a key player in the slowing of CAG expansions.
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Hats off to brain donors on Brain Donation Awareness Day
May 7 is Brain Donation Awareness Day. Today we highlight the selfless donation that many HD families have made, sending our gratitude, sharing research updates made with those precious brains, and detailing resources for brain donation.
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How many is too many? Exploring the toxic CAG threshold in the Huntingtonās disease brain
New work from researchers in London uses mice to narrow in on the number of CAG repeats needed to cause symptoms of Huntingtonās disease. Their work points to fewer than 185 CAGs as a threshold.
By Dr Chris Kay -
The directorās cut: how CAG repeats change the editing of genetic messages
Scientists in Massachusetts have recently advanced our understanding of how repetitive sequences in DNA can disrupt the creation and editing of genetic messenger molecules in cells, and how this could lead to the production of harmful proteins.