cag-instability
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Mending the fabric of your genes
6 min read
Cells constantly mend tears and rips in the fabric of your DNA, like a cherished pair of jeans. Sometimes this mending can add C-A-Gs by mistake. A group of scientists examined whether other kinds of rips in the genetic fabric may be occurring in HD.
By Dr Chris Kay -
Studying Stutters: What 900,000 genomes teach us about growing DNA repeats
7 min read
The CAG repeat that causes HD has a tendency to grow with age. New research on over 900,000 people uncovers parallel patterns and finds CAG growth can happen in many other parts of the genome.
By AJ Keefe -
Joining the Starting Lineup: MutLβ’s Role in DNA Repeat Expansions
7 min read
Scientists have known that MutLβ is linked to repeat expansion but not exactly how. A study reveals that the MutLβ protein complex is a main player supporting and interacting with key DNA repair proteins to drive DNA repeat expansions.
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Turning down mismatch repair genes slows Huntington’s repeat growth in human neurons
9 min read
In a human cellular system, scientists dialed back mismatch repair genes to reduce CAG expansion by up to 69%. This work is in its early days, but it shows promise for “anti-expansion” therapies that could be used to delay HD onset.
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A hitch in the stitch reveals why DNA sequence patterns matter in Huntington’s disease
9 min read
Two individuals with the same CAG repeat count can have vastly different HD journeys. A new study looking at individuals with 36-42 repeats shows that DNA sequence patterns play a major role in symptom onset and progression.
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Break Up With Your CAGs: How Three Letters Could Change Huntington’s Disease
9 min read
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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New insights into intermediate CAG repeats: Mapping the expansion continuum
8 min read
A new study uses ultra-sensitive research techniques to map DNA changes across the entire spectrum of CAG repeat lengths, revealing where intermediate repeats fit in the genetic landscape
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2025 HDBuzz Prize: When the Repair Crew Breaks Down: How Expanded Huntingtin Disrupts DNA Repair
8 min read
We’re proud to announce Mustafa Mehkary as a 2025 HDBuzz Prize winner! New findings reveal that the huntingtin protein is a key player in the cell’s DNA repair crew. In HD, the crew falls apart leaving DNA damage and alarm bells ringing in its wake.
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Stopping the Genetic Snowball: How a simple genetic interruption slows Huntington’s disease
8 min read
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
6 min read
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