Bjoern von Einem

, Dr. Bernhard Landwehrmeyer, Ulm University, Germany

Feasibility of assessing mHTT and wtHTT mRNA levels in CSF-derived exosomes

A new type of drug to treat Huntington’s disease, called an antisense oligonucleotide (ASO), is the first treatment that may actually slow down HD’s relentless progression. ASOs are short pieces of man-made genetic material that interact with the product (RNA) of huntingtin, the gene mutated in Huntington’s disease. This interaction leads to destruction of the RNA and ultimately reduces the amount of Huntingtin protein in a patient. The newest types of ASOs focus on reducing harmful huntingtin while leaving the healthy form intact. The challenge now is to monitor the effectiveness of these ASOs, by sampling the fluid that surrounds the brain and spinal cord. The cells of the brain release tiny bits of themselves, called exosomes, which should reflect what is going on in the brain cells from which they are released. Developing the technology to use exosomes for measuring huntingtin will allow researchers to monitor the effects of ASO drugs less invasively. In summary, the goal of this project is to find a technique to use spinal fluid for a view into the brain to guide development of innovative and effective treatments of Huntington’s disease.