Dystonia Dialogue - Summer 2014

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    Dystonia Dialogue

    4 DMRF-Funded Researchers Discover New Protein

    5 Scientific Workshops Inspire Targeted Research

    5 Dystonia Moves MeCampaign Makes Awareness Personal

    is Connecting the Dots

  • Inside This Issue4 DMRF-Funded Researchers Discover First

    TorsinA Chaperone ProteinBiP Revealed as Potential Therapeutic Target

    5 Dystonia Moves Me Promoting Awareness Gets Personal

    16 Impact Events Families Use Fun and Imagination to Support the DMRF

    20 Participate in Research by Volunteering for a Clinical Trial Studies Offer Access to Cutting Edge Care

    23 Personal ProfileMeet Marta Stoeckel-Rogers

    What is Dystonia?Dystonia is a disorder that affects the nervous system. Improper signaling from the brain causes muscles to contract and twist involuntarily.Dystonia can affect a single body area or multiple muscle groups. There are several forms of dystonia, and dozens of diseases and conditions include dystonia as a significant symptom. For more information visit: http://www.dystonia-foundation.org

    On the Cover:The DMRF is connecting the dots. When the Foundation first openedits doors in 1976, very little was known about dystonia and how totreat it. Affected individuals and families had no support groups to join or educational materials to read. Virtually no research ondystonia was being done anywhere in the world. Since that time,the DMRF has been building connections between researchers,patients and families, medical institutions, collaborators, supportleaders, and other partners to create a strong community ofsupporters working toward improving the lives of everyone

    with dystonia and advancing research toward a cure.

    The progress is inspiring. In this issue of the Dystonia Dialogue, youll read about the DMRFslatest efforts in research including the discovery of a new protein that is shedding light on the origins of primary torsion dystoniaread about Bip on page 4. On page 8, learn why the DYT25 dystonia gene may be one of the most significant recent advancements towardnew therapies. On page 16 youll read how families impacted by dystonia are supportingthese important scientific discoveries, building awareness, and rallying members of the dystonia community by hosting local events.

    The Dystonia Dialogue is the magazine of the Dystonia Medical Research Foundation(DMRF). It is published three times a year toprovide information to individuals affected bydystonia, family members, and supporters ofthe DMRF.

    The Dystonia Medical Research Foundation(DMRF) is a non-profit, 501c(3) organizationfounded in 1976. The mission is to advanceresearch for more effective treatments and a cure, to promote awareness and education,and to support the well being of affected individuals and families.

    Dystonia Medical Research FoundationOne East Wacker Drive Suite 2810 Chicago, Illinois 60601-1905Phone: 312 755 0198 800 377 3978Email: [email protected]: www.dystonia-foundation.org

    The Dystonia Dialogue reports on developmentsin dystonia research and treatments but does notendorse or recommend any of the therapeuticsdiscussed. Individuals are urged to consult aphysician with questions and concerns abouttheir symptoms and care.

    StaffJanet L. HieshetterExecutive DirectorDebbie DurrerDirector of DevelopmentKathleen BehnerDirector of OperationsLarquana BryanInformation Coordinator Jessica FeeleyEditor and Special ProjectsMartha MurphyBrain Bank LiaisonEmma PintoDevelopment AssociateJody RooseveltScience and Technology ManagerJan Teller, MA, PhDChief Scientific Officer

    Printed in the USA. Dystonia Medical Research Foundation

    Partial support of the Dystonia Dialogue is provided by educational grants from Allergan, Inc.and Merz Pharmaceuticals.




    Art Kessler Janet L. HieshetterPresident Executive Director

    Foundation UpdateDear Friends,

    The Merriam-Webster dictionary defines awareness as knowing that something exists. It alsodefines awareness as knowing and understanding what is happening in the world or around you.

    Before humans had writing, we shared knowledge and experiences by storytelling. The breadthof human discovery was passed along from one person to the next. Telling stories has propelledhuman survival and progress across generationsand across eras of history. Even in the presentatmosphere of pervasive advertising and flashy media technology, we continue to learn throughstories. The experience of a single person has the power to influence countless lives. The desireto describe what happens to us is part of human nature. There are more ways than ever for individuals to share their stories with other people and the world.

    The act of bringing stories from the dystonia community to the public is a cornerstone of creatingdeeper dystonia awareness. Building dystonia awareness is critical to achieving our ultimategoal of a cure and to providing resources to affected individuals and families, especially thosewho have yet to be diagnosed. The DMRF is grateful to everyone who generously uses theirdystonia experience to educate others. For many it is a passion; for some its something they doinstinctively without a second thought, and perhaps without realizing the power of their actions.

    In this issue of the Dystonia Dialogue, we invite you to help create meaningful dystonia awarenessby telling your story. See page 5 and join Dystonia Moves Me, a campaign of individuals acrossthe country who are promoting dystonia awareness simply by sharing how dystonia affects theirlives. We welcome everyone and anyone to join this effort. Devin McClernan shared his story ina documentary film that won the Grand Prize at the 2014 Neuro Film Festival and was premiered toan audience of 5,000 neurologistsa tremendous victory for awareness. Learn more on page 7.

    Creating dystonia awareness is a process. Many of us are waiting for that jackpot moment whena dystonia video goes viral online or a famous pop star decides to make the DMRF her favoritecause. We continue to be watchful for that opportunity. Until that day, we celebrate the numerousnews pieces that have reached national and local media, the multiple award-winning documentaryfilms, progress in legislative advocacy, and the moments our members take every day to bringvisibility to dystonia in their own way. The most effective operators in dystonia awareness are,without exception, those who feel the impact of dystonia each day and use their stories to helpothers understand.

    We are a community willing to do whatever it takes to move dystonia into a wider public audience.The successes we have had are the best predictors of the success yet to come. Together we aremaking a difference and giving voice to dystonia stories across the country and beyond. Thank you for sharing your stories and continuing to help improve dystonia awareness.

  • 4 SUMMER 2014

    A study co-funded by the DMRF reveals a critical new clue about theorigins of dystonia. Since 1997, scientists have known that a mutatedprotein called torsinA causes one of the most severe primary torsiondystonias, but the function of theprotein remains unknown. A teamof researchers has made importantheadway by uncovering a close relationship between torsinA andBiP, a well-studied cellular proteinthat was not known to have an association with dystonia until now.

    Dystonia is believed to result fromimproper signals in the nervous system that instruct muscles to contract involuntarily. Researchersdo not yet fully understand the neurological mechanisms that causethe abnormal muscle contractions.

    Jeffrey Brodsky, PhD, Professor andAvinoff Chair of Biological Sciencesat the University of Pittsburgh, andMichal Zolkiewski, PhD, AssociateProfessor of Biochemistry and Molecular Biophysics at Kansas State University, co-led a study that useda sophisticated yeast cell model toinvestigate several proteins that interact with normal torsinA and its dystonia-causing mutant. Thecell proteins belong to a family of chaperones, which are moleculesthat help other proteins take shapeand function properly or, in case of faulty proteins, disassemble anddeactivate them. When torsinA is mutated, it cannot function

    properly and becomes a target for chaperones and particularly for BiP, which appears necessary to degrade mutant torsinA. BiP stabilizes both normal and mutatedtorsinA in mammalian cells; it is the first identified chaperone to act on torsinA.

    Dr. Brodsky explains, For the first time we identified a cellularproteinknown as BiPthat helpstorsinA attain its proper shape inthe cell. Because drugs that targetcellular helpers such as BiP are indevelopment, we hope that thesemight someday be used to treat primary torsion dystonia.

    The study also found that secondary mutations in torsinAamplify the effects of the defectiveprotein when the dystonia-causingmutation is present.

    Brodsky laboratory is known for itsexpertise in studying cellular proteinsin yeast. The yeast genome makes itpossible to conveniently track genesand proteins, especially those thathave human equivalents, making it avaluable model for research on humandiseases. Although the discovery thatthe BiP protein modulates torsinAfunction was made in yeast, the researchers were able to validate the results in human cells.

    The next step is to identify other cellular helpers that impacttorsinA, says Dr. Brodsky. Thiswork is now conducted by DMRFresearch fellow Lucia Zacchi, PhD,Research Associate at Fundacion Instituto Leloir in Argentina. Dr. Brodsky adds: Additional proteins from her continued analysismight one day also be targets ofnewly developed drugs to tr