Another piece of the puzzle

The DMRF is committed to advancing research and achieving our mission of identifying new and more effective treatments and ultimately a cure for all forms of dystonia. The Foundation has proudly supported most of the world’s leading dystonia researchers resulting in discovery of pieces of the dystonia puzzle. This past week, our understanding was again advanced with the publication of a study that was supported by the DMRF and the National Institute of Neurological Disorders & Stroke.

DMRF grant recipient Flavia Nery, PhD and longtime dystonia investigator Xandra Breakefield, PhD of Harvard’s Massachusetts General Hospital, and their collaborators have discovered a significant clue toward understanding why a mutation in the DYT1 gene might lead to dystonia. According to the paper published in the prestigious online journal, Nature Communications, torsinA is involved in eliminating misfolded proteins from a part of the cell called the endoplasmic reticulum. When mutant torsinA, which causes DYT1 dystonia, is present, it interferes with this process, making cells unusually vulnerable to cellular stress that may compromise neuronal function. This work demonstrates a cellular link between the disease-causing torsinA mutation and fundamental mechanisms of neuronal dysfunction that may ultimately lead to dystonia.

DMRF Science Officer Jan Teller, MA, PhD explains, “Essentially, all dystonia disorders are considered a neural circuits malfunction. Therefore finding any molecular or biochemical way to put these circuits back ‘in order’ would be beneficial to all dystonias. Understanding how this works in DYT1 dystonia may suddenly open up new possibilities for designing dystonia-specific treatments.” Current dystonia therapies such as botulinum neurotoxin injections and deep brain stimulation surgery suppress symptoms without altering or improving the course of the disease. A new generation of therapies that target dystonia at the cellular level would be revolutionary to the field and could provide relief to thousands of patients.

Dystonia Advocacy Day and beyond

The fight to make sure dystonia we leave no stone unturned in securing support for dystonia research continues. Last month over 120 advocates went to Washington, DC to ask Members of Congress to support our request to have dystonia continue to be on the list of conditions eligible to have our researchers apply for funding through the Congressionally Directed Medical Research Program managed by the Department of Defense. Last week, Dee Linde – a DMRF and BEBRF volunteer provided testimony before the Senate Defense Appropriations Subcommittee to ask for their support. Dee, a former Navy petty officer, provided dystonia information to the Subcommittee members – appealing to them to help us learn more about dystonia so that we might be able to reduce or even eliminate the suffering of returning military personnel who, because of a traumatic brain injury, might be at risk for developing dystonia. The work of the Dystonia Advocacy Network members continues well beyond Advocacy Day and this is just one example of these efforts. Many thanks to Dee for sharing her personal story with the Senators present and to everyone who is working to keep the pressure on!