Posted on March 1, 2018
This week in Palm Springs, California marks the 13th Annual HD Therapeutics Conference. This yearly conference draws academic and industry researchers from all over the world to share their work about Huntington’s disease and participate in discussions about the latest in HD drug discovery. HD Buzz is covering the 3-day conference in real time through live tweets and on their webpage.
Interpreting this week’s news: basic science tools to better understand HD:
A better picture of huntingtin protein
To figure out how mutant huntingtin can do so much damage to the brain, scientists have long wanted to take a snapshot of the protein’s actual shape. This has been difficult to do because of huntingtin’s large size and floppy structure. A group of German scientists has finally cracked it by using an extremely powerful microscope and capturing huntingtin with one of its many dance partners, a protein called HAP40. Apparently huntingtin looks like a pair of headphones! This structural information is a milestone for researchers and could help to inform us about the best angle of attack for a future drug.
Tweaking CRISPR to make it more efficient
CRISPR is an experimental technique for editing genes that has gotten some buzz this week in the HD community. You can picture it like a scissor cutting through a taut length of ribbon in a specific spot. A team in Poland recently found a way to make an even more precise cut and tested it in HD patient skin cells grown in a dish. They were able to cut more carefully around the DNA mutation and decrease levels of the harmful huntingtin message and protein. However, be wary of headlines touting this as a cure. It’s definitely a good research tool and a step towards improving the efficiency and safety of the CRISPR technique, but it will require more exploration before it can be developed into a therapy.
Using Skin Cells to Study the Brain
What if a donated skin sample growing in a laboratory vial could be used to study a person’s brain? A team at Washington University St. Louis led by scientist Andrew Yoo developed a chemical cocktail applied to skin cells growing in a dish that causes them to morph into medium spiny neurons, the brain cells that die in HD. When the growing skin cells from symptomatic HD patients were “reborn” as brain cells, they showed clumps of huntingtin and damage similar to what occurs in the brain. This could be a useful new tool making it simpler and more accurate to study human cells in a dish.