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MITOCHONDRIAL NEWS United Mitochondrial Disease Foundation SPRING 2002 MITOCHONDRIAL NEWS United Mitochondrial Disease Foundation (which will vary from time to time), Ask the Mito Docs and They Will Respond and stop once symptoms become In the Spring of 2001, UMDF introduced a new look for its web site and added a feature significant. called Ask the Mito Doc. Members ask questions regarding mitochondrial diseases and they are forwarded to a mitochondrial specialist to respond. The questions and answers THE QUESTION IS: have been very informative and UMDF felt compelled to share some responses with all its members (especially for those who do not have internet access). Please note that I understand that a lactate/pyru- information contained in "Ask the Mito Doc" is for informational and educational vate ration >20 might suggest that an purposes only. Such information is not intended to replace, and should not be individual has an OxPhos disorder. interpreted or relied upon, as professional advice, whether medical or otherwise. Can you tell me why? Also would this ratio apply to urine lactate and Responders for this issue: Bruce H. Cohen, M.D., The Cleveland Clinic Foundation, OH pyruvate, blood samples, cerebral and Richard G. Boles, M.D., Children’s Hospital of Los Angeles, CA. spinal fluid or all three? RESPONSE FROM: THE QUESTION IS: energy. Incoordination may be sec- ondary to muscle weakness or low BRUCE COHEN, MD I have adult onset mitochondrial energy in the nerves. You may want to get out your problems, which have not yet been I wish that I could answer your textbook of metabolic pathways clarified as to which metabolic path- question regarding activity guide- here. There is no easy way to explain ways are involved. Meanwhile, I find lines, but I cannot. In fact, no one this. However, if you follow the dot- that cold exposure as well as physi- can, except perhaps yourself. When ted lines, it all makes very good cal activity can lead to considerable you are experiencing significant pain sense. Here we go. weakness, incoordination and pain or weakness, that is the time to stop. The ratio of lactate to pyruvate in my legs and feet. I no longer know The amount of allowable activity reflects the ratio of NAD+ to NADH. how far I can go in a day and how to varies substantially among patients, Glucose is converted to pyruvate, determine the significance of pain, and, as you have found out, there is which enters the citric acid cycle, which is the first of the symptoms tremendous variability from time to where high energy NADH is generat- that develop as the day goes on. time even in the same patient. ed. The electron transport system While I want to be as active as possi- In some patients, rhabdomyolysis accepts the high energy NADH and ble, I do not want to cause tissue or (muscle breakdown) can occur with as it is converted back to NAD+ elec- nerve damage. Could anyone sug- exercise. Other potential triggers for trons are pumped across the inner gest guidelines to help a patient rhabdomyolysis include illness, Continued on page 5 determine when to continue or cur- fever, fasting, alcohol and stress. tail activity? Rhabdomyolysis should be suspect- ed when the urine becomes "Coca RESPONSE FROM: Cola colored". If present, medical RICHARD BOLES, M.D. attention should be immediately Mitochondrial disease can be sought and hydration (by mouth or thought of as like an electrical power iv) given to avoid possible kidney crisis: the lights tend to "brown-out" damage. at times of peak energy demand, for Please do not take this response example during extreme weather to mean that exercise is dangerous conditions when everyone is run- and should be avoided. Many ning the heater or air conditioner. "mito" specialist strongly believe the Similarly, in mitochondrial disease opposite: that exercise is necessary Turn up the power! the body's cells suffer from low and can improve muscle strength available power at times of peak and endurance, as well as general UMDF Mito-Dallas energy demand, for example during well being in patients with mito- 2002 Symposium hot and cold weather, exercise, fever, chondrial disease. The best advice is illness in general and stress. moderation: don't over do it or June 6-9, 2002 Weakness and pain are typical under do it. Exercise frequently and See page 9 for schedule symptoms when muscle is low on up to your individual tolerance Chairman’s Report Board of Trustees Charles A. Mohan, Jr. - Chairman This continues to be another exciting year for UMDF. We are excited Mark Fleming - Vice Chairman about the upcoming UMDF Symposium, which will be held on June 6-9, Stan Davis - Secretary 2002, in Dallas Texas. This will be the 5th symposium of its kind on mito- chondrial disease in the United States. The mother & daughter team of John DiCecco - Treasurer UMDF Trustee, Jane Clarke McManus and former Trustee, Kathryn Parsons Bruce H. Cohen, M.D. have worked diligently to construct a sym- Charles L. Hoppel, M.D. posium that promises to be as great and as Jennifer Lyman big as the state of Texas. Keep an eye out Jane Clarke McManus for the registrations forms that will be Nick Rillo mailed soon. Rand Wortman The UMDF has just reached another Scientific Advisory Board milestone. Dr. Georgette Demes, UMDF Michael J. Bennett, Ph.D., FRCPath, DABCC Director of Development and Programs, has successfully organized the first gathering of Gerard T. Berry, M.D. doctors and scientists to discuss the forma- Richard G. Boles, M.D. tion of an epidemiological study on mito- Salvatore DiMauro, M.D. chondrial disease. Scientists, researchers Carol Greene, M.D. and doctors representing various disciplines Richard H. Haas, M.B., B.Chir. gathered at the UMDF office for a day of Richard Kelly, M.D., Ph.D. presentation, discussion and exchange. Douglas S. Kerr, M.D., Ph.D. The UMDF patient registry database was demonstrated and received ter- Nicolas Krawiecki, M.D. rific reviews from the attendees. It was decided that the UMDF registry Arnold Munnich, M.D., Ph.D. should be used as a foundation for investigation that may provide some Robert K. Naviaux, Ph.D., M.D. very good data for review. We will keep you posted on the development of William Nyhan, M.D., Ph.D. new questionnaires for updating your medical information. Brian Robinson, Ph.D. The UMDF Research Grant Program, chaired by UMDF Vice President, Eric Schon, Ph.D. Mark Fleming, is experiencing more activity than ever. Consolidating the John Shoffner, M.D. hard working efforts of so many UMDF members along with terrific results Eric A. Shoubridge, Ph.D. of UMDF Chapters is beginning to reap benefits. This year's grant award of Keshav Singh, Ph.D. $250,000 is getting the attention of the scientific community and UMDF is David Thorburn, Ph.D. being recognized as an effective funding source for research. UMDF contin- D.M. Turnbull, M.D., Ph.D. ues to promote and adhere to its 5.25 million dollar fundraising initiative. Rajiv R. Varma, M.D. We are on target and looking forward to awarding $500,000 in 2003. Keep Georgirene Vladutiu, Ph.D. up the great work! Douglas C. Wallace, Ph.D. The UMDF Newsletter, Mitochondrial News, continues to set the stan- dard for foundation newsletters. It used to be very difficult to find up to National Office date and accurate information about mitochondrial disease but now all we Georgette Demes, Ph.D. have to do is refer to the articles contained in the UMDF Newsletter. The Director of Development and Programs first newsletter was 8 pages long this issue will be 24! Support Staff Isn't it amazing how much good has resulted from a disease so devastat- Betsy Ahearn ing? President Bush, in his State of the Union Address said, "As we gather Jean Bassett tonight, our nation is at war, our economy is in recession, and the civilized Antoinette R. Beasley world faces unprecedented dangers. Yet the state of our union has never Robert Bolewitz been stronger." "We begin to think less of the goods we can accumulate, and more about Doug Beckett the goods we can do..." Julie Hughes "My call tonight is for every American to commit at least two years - 4,000 Melinda O’Toole hours over the rest of your lifetime - to the service of your neighbors and Kara Strittmatter your nation..." Sandy Turi Do the worst of situations and times bring out the best in people? Do © The United Mitochondrial Disease Foundation. tragedies draw more of us together rather than push us apart? All rights reserved. Yes! UMDF’s intent is to keep you informed - we ask that you always discuss any diagnoses, treatments, or Yours toward a cure, medications with your personal physician. UMDF assumes no liability for any information in the Mitochondrial News. Chairman, UMDF 2 Mitochondrial News Spring 2002 National Office Updates Visit the By Georgette Demes, Director of Development One of the first questions I am asked by major UMDF prospective supporters of UMDF is: How large is your membership? This number is fundamental Web s i t e to promoting UMDF as a deserving cause for as it has recently been updated! major funding. To better position UMDF to • Participate in the new Instant Poll attract grants from leading foundations in the Complete the Patient Survey on the health advocacy arena, UMDF is beginning a • "Burdens of Mitochondrial Disease" process of clarifying its membership. Annual dues paying members receive these benefits: • Learn or refresh your knowledge Triannual newsletter into the genetics of mitochondrial disease with our new and improved Networking other families, individuals and physicians Genetics page Members only web site areas, such as Ask the Mito Doc, Patient Registry, etc.
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