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.
A recent paper links CAG repeat expansion with widespread RNA changes, especially in brain cells vulnerable to HD. “Knocking out” certain DNA repair genes that go awry in HD can have positive effects on features of HD in mice.
Using CRISPR technology, scientists uncovered genes that control C-A-G genetic stumbles in Huntington's disease
A highly-anticipated scientific paper has landed! This new work challenges current theories in Huntington’s disease research, uncovering how runaway CAG repeats erode cell identity in certain types of brain cells, leading to their death.
Researchers have detected early changes in brain scans and biomarkers in young people with the Huntington’s disease gene, 20 years before symptoms are predicted to appear. These findings could help develop medicines to treat HD earlier in life.
There’s more good news in the forecast in the Huntington’s disease therapeutic space as we receive positive results from Skyhawk Therapeutics about their small molecule SKY-0515 that lowers huntingtin and targets somatic expansion.
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.
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.
New work from researchers in London uses mice to narrow in on the number of CAG repeats needed to cause symptoms of Huntington’s disease. Their work points to fewer than 185 CAGs as a threshold.