somatic expansion
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Break Up With Your CAGs: How Three Letters Could Change Huntington’s Disease
Scientists engineered stem cells with “interrupted” CAG repeats to break up the toxic stretch. This may stop expansion, and could improve problems in cells that model Huntington’s disease. This study suggests that DNA spelling can drive the disease.
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A road less traveled: how making less huntingtin can alter somatic instability and may delay symptoms
CAG repeats can get longer over time as the HD gene is used, like the growing potholes and cracks in an old road. New research finds that blocking cells from using their HTT gene slows this wear and tear, which might slow the onset of symptoms in HD.
By AJ Keefe -
Unzipping the Secrets of DNA Repair
The structure of the MutSβ molecular machine gives us more clues to the mechanism of CAG repeat expansion and how we can target it.
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Controlling DNA Scanning Machines to Slow Expansion of CAG Repeats
A new study identifies small molecules that target a DNA repair machine, opening a potential path to delay Huntington’s disease onset.
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SKY-0515 Lowers Huntingtin In People With Huntington’s Disease In Trial Update
SKY-0515, an oral drug, safely lowers huntingtin in people with HD and may also reduce PMS1. This could offer a possible two-pronged approach to treat HD. SKY-0515 is now being tested in a larger Phase 2/3 trial.
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When DNA Repair Goes Off Script: How a Small Change in FAN1 Can Accelerate Huntington’s Disease
Two studies show how a small change in FAN1, a DNA repair protein, can speed up HD. The alteration disrupts FAN1’s DNA grip, driving repeat expansions and earlier symptoms.
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Stopping the Genetic Snowball: How a simple genetic interruption slows Huntington’s disease
The Huntington’s disease mutation worsens over time like a dangerous snowball. By harnessing the power of the gene editing tool CRISPR, scientists may have found a way to interrupt the HD mutation and stall disease onset.
By AJ Keefe -
The latest volume of HD genetics research reveals new gems but also mysteries
Each person with HD has genetic spelling changes that can impact HD symptoms. Scientists have released the latest in a series of genetic studies examining these spelling changes, shining a light on new paths to develop treatments for HD.
By Dr Chris Kay -
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. “Knocking out” certain DNA repair genes that go awry in HD can have positive effects on features of HD in mice.
By Dr Leora Fox