A team of investigators led by William Dauer, MD of University of Michigan has made new discoveries about DYT6 dystonia, which affects children. DYT6 dystonia occurs when the body cannot properly produce a protein called THAP1, whose role and function in cells is unknown. Using a mouse model, Dr. Dauer and colleagues discovered that THAP1 is essential for myelination, a process during brain development that forms a protective coating around neurons. Myelination enables neurons to transmit signals more efficiently and is vitally important to healthy brain functioning. A number of diseases, including multiple sclerosis, are caused by damage to the protective myelin coating.
This study establishes a role for THAP1 at the start of the myelination process and implicates abnormal timing of myelination in the pathogenesis of DYT6 dystonia. The findings point to a direct link between myelination and childhood-onset dystonia providing new insights into how and why certain types of dystonia might develop at specific stages of brain development.
Onset of DYT6 dystonia is usually in the late teens. Symptoms of DYT6 may occur as generalized dystonia or remain focal to a specific part of the body. Symptoms typically affect muscles groups above the neck: tongue, vocal cords, and face. About 40% of individuals who have a DYT6 mutation will develop dystonia.
The DMRF is proud to have supported this work. For an extended interview with Dr. Dauer about his groundbreaking research and longtime relationship with the DMRF, visit dystonia-foundation.org/dauer_interview.
Yellajoshyula D, Liang CC, Pappas SS, Penati S, Yang A, Mecano R, Kumaran R, Jou S, Cookson MR, Dauer WT. The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.Dev Cell. 2017 Jul 10;42(1):52-67.e4.
Article republished with permission from DMRF Dystonia Dialogue, Winter 2017. Volume 40, No 3.