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Question:
My children and I carry the mitochondrial gene for Lebers Hereditary Optic Neuropathy, LHON. It is fine unless the disease is triggered and then the person loses his/her vision. I know certain drugs are damaging to the mitochondria. My son has ADHD and has trouble in school; we have tried lots of homeopathic intervention. I have been advised to put him on a medicine to help him focus. I have heard that the drugs like Ritalin are not safe. One doctor recommended that we try Strattera and said that should be safe and not damage the mitochondria. I am trying to find any answers. Do you know if this class of drug is safe?  I really don't want to trigger blindness in my child.

Answer:

I am sorry to hear that your family carries an LHON mutation. It is important to note that not all patients with LHON become symptomatic, and the genetic test results including the mitochondrial DNA haplotype can help your medical team determine the risk of developing symptoms. It is also important to note that Idebenone may help vision recovery if symptoms occur. If you or a family member are at-risk for possible symptoms, we mostly worry about triggers such as alcohol overuse and tobacco/nicotine as potentially bringing on vision loss.

 

On some level, many drugs can interfere with mitochondrial function; however this does not mean that they are not safe to use in patients with mitochondrial disease. We do not have a definitive list of medications that one must avoid. There is no clear evidence that any prescription medications bring on symptoms in LHON.  If your family member needs a trial of stimulant medication, there is no mitochondrial contraindication to using the medicine (in LHON or other mitochondrial diseases). I recommend discussing any medications used with your mitochondrial physician. Sumit Parikh, MD

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Question: I am 48 years old and over the years I have developed bilateral thoracic outlet syndrome, bilateral cubital tunnel syndrome and right pronator teres syndrome. I have had some poor outcomes following surgeries for these conditions(nerve transposition and PT release). During one of my surgeries two very large fibrous bands were found compressing the median nerve causing my pronator teres syndrome. I felt some immediate relief following surgery however I was immobilized for an extended period of time and developed a lot of scar tissue which caused my thoracic outlet syndrome to progress into a full-blown plexopathy. Although I know it is extremely risky, I feel as though I need a second surgery on this arm since the use of my arm has become very minimal. My pain is extreme and I have severe atrophy in the muscles innervated by the median nerve. My question is: in patients who have mitochondrial disease, is it a given that nerve decompression surgery will be a failure? What is your experience with this? Surgeons are extremely hesitant to treat me due to prior failed surgeries but also because they believe that my nerves are intrinsically unhealthy and it is nothing that they can do surgically to decompress them.

Answer: Tough one – in general we do VERY few decompressions UNLESS severe and good evidence of a fibrous band – often the recovery afterwards is incomplete even if the fibers are removed due to permanent damage. This is NOT likely at all related to mitochondrial disease (except if you perhaps have NARP or MNGIE (the latter not likely)). My concern if these compressions are occurring that you could have hereditary neuropathy with liability to pressure palsy (HNPP) for it is unusual to have so many nerve compressions.

As far as the decision to re-do the surgery, discuss with the doctor who did them about risk/benefit and decide from there.

Answered by: Mark Tarnopolsky, M.D., Ph.D., FRCP(C), McMasters University

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Question: My 7 year old son has Pearson syndrome. He has been on growth hormone injections for 1 year. It has helped him grow and gain muscle strength. He is now starting to show sensorineural hearing loss and possible cognitive problems. Can the growth hormone cause the acceleration or worsening of the disease? I am afraid that I did something to try and help him but may have made things worse for him.  

Answer: No formal data have been collected on the use of growth hormone in mitochondrial disease. It is used fairly commonly in a variety of other metabolic disorders with no apparent ill effects, though it often is also not effective in promoting growth. Your son has benefitted from the therapy in terms of growth and strength and that will help him in the long term. There is no way to know if the progression of his hearing loss is related.

Answered by:  Jerry Vockley, M.D., Ph.D. University of Pittsburgh

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Question:  A physician suggested that I get tested for MNGIE. I have classic symptoms of MNGIE however I was wondering if normal mtDNA from a muscle biopsy rules this condition out.

Answer:  No, MNGIE is diagnosed by either gene or enzymatic testing of thymidine phosphorylase, the affected enzyme in this specific mito disorder.

Answered by:  Fran D. Kendall, M.D., Virtual Medical Practice, LLC Atlanta, GA

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Question: I am a 41 year old female and have been diagnosed with Mitochondrial Disease, problems with Complex I and III. I then had genetic testing done and found out that I have a new never before seen mutation in the RYR1 gene and was told I am risk for Malignant Hyperthermia. My parents have submitted blood samples for testing and my 3 children will be tested soon as well and then others in my family. Is the RYR1 mutation the cause of my Mitochondrial Disease?  

Answer: Mutations in the RYR1 gene are the most common cause of Malignant Hyperthermia (MH) and these mutations are usually autosomal dominant (you only need one mutant Ryr1 allele out of the two to cause the symptoms). However, in your case, the mutation is new and the consequence is unknown. Mutations in genes can be silent (have no effect) or effect the function of the gene. Silent mutations are usually termed single nucleotide polymorphisms (SNP) and are frequent in most genes as compared to rare disease causing mutations. Thus, in your case, since it is a new unclassified mutation, the consequence is unknown. Further genetic testing of the family will help determine if this mutation is associated with any symptoms.

There are overlapping signs between MH and mitochondrial disease. Usually MH is triggered by an environmental insult, especially anesthesia, so that may be something to keep in mind. Usually, MH symptoms precede the mitochondrial disorder. Consult your physician on the possible link between MH and mitochondrial disease.  

Answered by:  William Copeland, Ph.D., National Institute of Environmental Health Sciences Durham, NC

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Question: My daughter, 2 years old, has been recently ,3/2/12, diagnosed with a mito disorder of the POLG region with mutations p.w235x and p.a467t. She has been hospitalized 5 times since first presenting on 3/2 with status epileptus, our longest stay being 34 days. All hospital stays due to seizures. She has regressed from completely normal, bright little girl on 3/1 to not walking, not talking, not seeing, not eating. WE have tried many different aeds including trileptal, keppra, and dilantin. She is currently on 60mg phenobarbitol pm and 100 mg vimpat am and pm as well as the ketogenic diet with no true seizure control. I am wondering if some of jerking activity could be myoclonic and not seizure. How would we know? What do you think about the ketogenic diet for her condition and what other seizure meds would you advise? Lastly, what can you tell me about these 2 mutations? 

Answer: I am so sorry to hear about your daughter. From the POLG mutations and your description it sounds like your daughter has Alpers-Huttenlocher syndrome. In this disorder, the seizures are relentless and become very difficult to treat. It is very important to try to tease out what are myoclonic seizures and what are myoclonus movements. Our seizure medications do not do well controlling myoclonus. Early in the course of myoclonus, we sometimes have luck with using large doses of levetiracetam (Keppra) or periacetam (available on the internet). Depending on how wide spread the myoclonus and life impacting they become, we can sometime slow them down using Botox injections to the muscle groups causing most of the harm. There are some other treatments, but they are more invasive. Trying to treat the seizures (including the myoclonic seizures) can be as frustrating. I have found that Lamotrigine to be very helpful, as it is also a theoretical protector of complex I. We have tried the ketogenic diet as there are a couple of case reports that the diet might be helpful. We have not had much success using the diet, likely it is the stage of where the disease is, that might be the reason that it did not work for us, in the few cases we tried. Depending on what the EEG demonstrates, we have seen some benefit with cloabazam added to either or both-lamotrigine and lacosamide. But, as the seizures continue and the disease progresses, achieving seizure freedom is so very difficult. There are case reports using magnesium for seizure control, but this has not been helpful in our patients.

The problem with using large doses of phenobarbital and ketogenic diet together, is the carbohydrate load that large doses of phenobarbital has in the pill form. I am not sure if you can achieve a high enough beta hydroxybutyrate (ketosis) with this combination. Certainly the enzyme induction of phenobarbital inhibits many other seizures medications as well as producing rather high triglyceride levels in some patients.

Alpers-Huttenlocher syndrome is an autosomal recessive disorder. That means that you need two mutations, one on each allele for the disease to be expressed. Form your question, it looks like your daughter got one mutation p.467A>T in one allele and a stop codon inducting (truncating) mutation in the other allele, p.235W>X. This would be called a compound heterozygote (two distinct mutation, one on each allele).  

Answered by: Russell Saneto, D.O., Ph.D., Seattle Children's Hospital/University of Washington, Seattle, WA.

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Question: We lost our little daughter to mitochondrial disease. How do we get the necessary care for our son, who has also been diagnosed with mito by two mito specialists? The doctors here do not understand mitochondrial disease and do not agree with the out-of-state testing we had done. Other local mito families are having similar problems after having out-of-state testing done (not all at the same lab). We aren't asking for invasive things to be done to our child but do feel that the advice from the mito docs to have annual tests to make sure the organs are functioning okay is a good idea especially after losing our daughter. It seems wise to us to keep a close eye on things since anything can trigger problems with this disease. We are being told here that the doctors are confused and don't understand how our child has mito. It's unclear to us how they think he doesn't "fit" mito. These doctors attended a recent mito Grand Rounds and have been given literature. What else can we do?

Answer: “I am so sorry to hear about your daughter. I can’t imagine your inner turmoil. I think what you need to do for your son is what you are outlining in your question. What is the type of mitochondrial disease that your son has? If you have the particular diagnosis, i.e. Kearns-Sayre then you can have your mitochondrial disease physician indicate the natural history as best as it is known to convince your local physicians what testing should be performed. I do not understand your statement about “out of state testing.” Some of the testing that we do for investigation of possible mitochondrial disease is only available at a few select sites, so part of the testing is out-of-state for most all patients. For example, electron transport chain enzymology is only available in Texas, Georgia, Ohio, Buffalo, Minnesota, and California (and less than this for muscle tissue). Whether a physician agrees to the results of testing is another story. You may only be able to demonstrate that there are certain criteria in the literature that is used to make the diagnosis of “definite” mitochondrial disease.

It might be best to find one physician with whom you can work with and hopefully devise a plan of care for your son. You might ask the mitochondrial disease expert to help you come up with a plan of care. Depending on what type of mitochondrial disease your son has, certain types of tests may be annual and some may not be critical and as the disease progresses, that plan will likely change.”

Answered by: Russell Saneto, DO, PhD, Seattle Children’s Hospital

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Question: My father was diagnosed with mitochondrial cytopathy (multiple deletions of mtDNA with sensory cord syndrome to T4) 5 years ago and symptoms started in 1992 initially with vision loss. He is now blind (bilateral optic neuropathy) and suffers from tinnitus, hearing loss, temporal lobe partial seizures, myeloradiculopathy, numbness in legs, bowel/urine problems and muscle/nerve pain. Recently his consultant has notified him that his condition may be a problem in the nucleus of the cell instead of the mitochondria. What is your opinion? Also would he benefit from the use of idebenone?

Answer:  Your father appears to have a mitochondrial DNA (mtDNA) deletion disorder based on the finding of multiple deletions that you report. Indeed, there are multiple large portions (several thousand nucleotide letters) out of the 16,569 base pair mitochondrial DNA genome that can be missing (‘deleted’). Regardless of where these deletions are in the mtDNA, they typically cause severe mitochondrial dysfunction because they invariably prevent from being made multiple proteins that are encoded by mtDNA. Such disorders can variably affect different tissues over time, depending on the number of complete (normal) to deleted (abnormal) mtDNA copies in a given tissue. It’s also now recognized that mtDNA deletions can themselves be caused by mutations in a person’s nuclear genes. For example, individuals with POLG (polymerase gamma) gene mutations can accumulate mtDNA deletions or point mutations over time since this gene is normally required for the mtDNA to be copied and repaired. There are multiple other nuclear genes that are involved in maintaining the mtDNA that can also have mutations that cause progressive, multi-systemic disease due to accumulation of mtDNA deletions. It is definitely prudent for your father to revisit the question of his disease etiology with his mitochondrial disease specialist since there are many new options for diagnostic testing of nuclear gene causes of mitochondrial disease. In terms of particular therapies, there are really no proven cures for mitochondrial disease. Idebenone has been studied as an antioxidant that may improve some aspects of vision in some (but not all) cases of a specific mitochondrial disorder (Leber’s Hereditary Optic Neuropathy) that is caused by point mutations (misspellings) in the mtDNA. The decision to pursue any specific mitochondrial therapy must be carefully considered in each patient in discussion with their mitochondrial disease specialist.

Answered by: Marni Falk, MD, Children’s Hospital of Philadelphia

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Question: I was diagnosed with mitochondrial dysfunction & have had severe multiple sclerosis-like symptoms for the past 20 yrs. The systems that are affected are my brain, nerves, muscles, eyes, ears, respiratory, intolerance to heat & extreme fatigue, among others. I have lactic acidosis. My question is when originally the diagnosis was multiple sclerosis, I qualified and have been on disability. Now that I have the mito diagnosis, would I still qualify to continue disability as I am unable to work due to fatigue & cognitive impairments? My case is up for review this year.

Answer: Although many states have standard diagnoses that qualify someone for disability, most rely more on a doctor’s certification of the person’s medical condition. So, if your symptoms have not resolved and you remain too impaired to work, it should not matter if your diagnosis has changed. I would suggest asking your doctor to write a letter for your review, detailing your condition and why you are unable to work.

Answered by: Mary Kay Koenig, MD

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Question: I know that some mitochondrial diseases can be somewhat controlled with diet and exercise. What kind of diet do you recommend for a mitochondrial patient with exercise intolerance and gastroparesis, and what kind of physical activity is good for someone with severe exercise intolerance with easy muscle fatigability and immediate anaerobic metabolism?

Answer: The answer is complex and VERY individual - firstly, gastroparesis limits the food intake and the degrees of this are huge (mild >> severe) so keep that in context and you may have to try different types, volumes and timing - in general, it is best to start with some resistance type exercise with 2 days rest between sessions and use a circuit set with 1 set of 15 repetitions - gradually move up to 3 sets of 12 - 15 repetitions and try taking only one day between sessions - after a few months, titrate in short periods of endurance exercise (whatever you like) for only 5 minutes and gradually increase as tolerated to a max of 45 minutes on the day between the resistance/weight sessions. In general 1.2 g protein/kg/d in diet and taking some carbohydrate and protein (10 grams) after a work out is best - of course these are general suggestions and it will likely take a combination of a nutritionist/dietician and a personal trainer/kinesiologist to help with the specifics while you "listen to your body" and do not exercise on days that you have a fever or other illness. Again, these are very general because I do not know you as a patient, but should help.

Answered by: Mark Tarnopolsky, MD

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Question: I was recently diagnosed with adult Mito Disease. I feel nauseous constantly and just feel ill and fatigued all the time. At one point my ck values were very high and my doc thought I was a bit dehydrated so she put me in the hospital overnight with IV fluids. I cannot tell you how much better I felt the next day by noon when they discharged me. I was EUPHORIC I felt so wonderful--like I used to feel before I got sick with the Mito (2 years before of constantly feeling horrible). I rushed home and called my family so excited about how great I felt and I thought that maybe the idea would be for me just to drink water ALL DAY LONG to try and simulate what I got in the hospital. To my dismay however, no matter how much water I drank and drank and drank within 24-36 hours I was back to feeling terrible again. That was one of the worst setbacks I have ever encountered-to have a brief "taste" of feeling like my old self again and then it goes away.

My question is this and I know it sounds outrageous, but could I somehow not be absorbing liquids and that’s why I am so sick and nauseous and why the IV made me feel SO much better? Could I be hooked up to IV at home while I sleep? Is that a crazy question to ask? I am too embarrassed to ask my doctor, but at this point I would walk around with an IV 24/7 if it made me feel that good again! As far as I know there was just water in the IV.

Answer: Many people feel better while receiving IV fluids, especially fluids containing dextrose (sugars) and vitamins. Unfortunately, the risks associated with IV fluids are not negligible and therefore it is not something that is typically given outside the hospital. Your response does however seem extreme and may warrant further investigation. Your doctor can check lab work and urine studies to see if you are dehydrated and/or having difficulty absorbing fluid. You should also check with your doctor to see if there were any additives to the fluids you received. You may have an undetected vitamin deficiency that was being treated, or if the fluids contained sugar, you might benefit from increasing your carbohydrate intake and/or supplementing your diet with a long-acting carbohydrate such as corn starch.

Answered by: Mary Kay Koenig, MD

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Question: For an acute infection, the doctor gave me a different antibiotic that is new to me; Levofloxacin. I am careful to read the medication guide for it and it has me nervous that someone with Mito should not be taking this. Can you tell me if I am at any more risk than those without Mito in taking this medicine. I am supposed to take it for 5 days and have heard that it is very strong. It may be what I need to get over the infection, but will it have a bad effect on my good mitochondria?

Answer: I think it is important to remember that ALL medications have side effects and not every patient will have some or all side effects published. The fluoroquinolones are used most often in gram negative infections (for example, which usually happens with bladder infections). They represent an important antibiotic family that is used quite frequently, more in the adult world but also in children now. Unfortunately, there are many side effects that have been reported with this class of antibiotic. The usual mechanism of antibiotic selection is to use a broad spectrum antibiotic until the bacteria sensitivities are known and then narrow down the antibiotic selection to the one that is most efficacious against that particular bacteria causing the infection.

The fluoroquinolones have a tendency to decrease pyrimidine synthesis, alter collagen synthesis in Beagles, alter redox-cycling oxygen activation, and can alter bacteria flora (which may induce a specific bacterial infection in the GI tract). There are many other side effects noted, if you read the package insert. The effect on pyrimidine synthesis would be theoretically problematic in a patient with mitochondrial DNA depletion syndrome and possibly severe complex I or II deficiency. The alteration of redox-cycling oxygen activation would be theoretically important in a patient with Friedreich Ataxia where iron overload is a concern. In my patient population I see some patients develop C. difficile infections of the GI tract, but certainly not all. There are assorted other side effects, but most are self-limited.

It is difficult to tell you about a certain antibiotic without knowing the type of mitochondrial disease, how involved your disease might be, and the reason for taking the antibiotic medication. There is always a risk-benefit issue with any medication and medical procedure and one has to weigh what is known about the risks to the possible benefits of the medication. One also needs to understand how and if there is a specific mitochondrial alteration that may take place, given the type of mitochondrial disease.

Answered by: Russell Saneto, DO, PhD, Seattle Children’s Hospital

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Question: Our son, age 12, was diagnosed with mitochondria Complex I,II, IV at 12 months. He has low tone, amblyopia, and presents deficits in speech, language, fine motor, bowel control, and cognitive and tests within mental retardation ranges at school. He is currently taking methylphenidate ER 20 mg for attention deficit. There has been slight improvement with the medications but still requires CONSTANT re-direction or one-on-one attention with all activities. We are considering increasing his dosage, but cautious due to side effects. What treatments other than the traditional ADD medications are necessary and/or appropriate in the background of mitochondrial disease? How much does the mitochondrial disease cause symptoms that mimic ADD? Based on his 5 ft, 91 lbs, would you recommend an increase in dosage? Or even changing his prescription?

Answer: The decision to medicate a child with ADD/ADHD spectrum issues is a difficult one and is not typically something I do or recommend unless all other avenues of treatment such as educational modification with, for example, one-on-one teaching assistance has been tried. If all other avenues fail and the ability to learn is severely impacted in a child who has the capacity to do so but cannot, due to ADD/ADHD, then I am supportive of ADD/ADHD medication. Methylphenidate ER 20 mg per day is often a starting dose for this medication. However, modification of current dosage or the decision to switch to another medication must be determined by a treating physician who will weigh the risks and benefits of doing so.

Answered by: Fran D. Kendall, MD

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Question: Is there any dietary intervention for patients with mito (and suspected mito, specifically elevated lactic acid and pyruvic acid) that can help to improve symptoms? With our daughter, almost 3 yrs. old, we have found that her body cannot tolerate salicylate-containing foods and phenolic-containing foods (fruits and vegetables and even artificial colors), in addition to severe milk and soy and chemical sensitivities. Since it is well known that as aspirin (acetylsalicylic acid) is metabolized it inhibits COXII and uncouples oxidative phosphorylation, isn't it possible that those who are already mito-compromised, could be negatively affected by ingesting and metabolizing salicylate- containing foods?

Answer: I am not aware that small amounts of salicylate-like compounds in food are in any way harmful but if there are foods that one is sensitive to, avoid them. From a dietary intervention perspective, some find that smaller more frequent meals help. Of course there is a large body of literature regarding supplements that may enhance function.

Answered by: Mark Tarnopolsky, MD, PhD, FRCP(C)

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Question: I am a 32 year old identical twin and I was diagnosed with mitochondrial disease (MNGIE) this past May. I am on 100% nutrition with a j-tube and use a power wheelchair to get around. I also have seizures, extreme fatigue, RA, hypothyroidism, adrenal insufficiency, ptosis, chronic progressive external ophthalmoplegia (CPEO), PFO, and an enlarged descending aorta and swallowing/aspiration issues. My identical twin sister has none of these symptoms except the horrible fatigue and has a tremor/shaking in her hands that's cause is unknown. My question is why would identical twins not have the exact same symptoms? Wouldn't we have the same mtDNA mutation and thus the same symptoms? She is extremely worried that she will end up like me. What are the chances of that happening to her?

Answer: MNGIE is a mitochondrial disease that results in all cases from mutations in a nuclear-encoded gene, TYMP (thymidine phosphorylase). A marker for the disease is an increased plasma thymidine concentration, and thymidine phosphorylase enzyme activity in white blood cells of affected patients is below ten percent of healthy controls. This disease is inherited in all cases in an autosomal recessive fashion, which means that an affected individual has disease-causing mutations in both of their copies of the TYMP gene. These mutations are typically inherited from their asymptomatic carrier parents, where two carriers together have a 1 in 4 (25 percent) likelihood of each child inheriting both mutant copies of the gene (alleles) and being affected with the disorder. It is important to confirm that you do indeed have MNGIE, which is best done by sequencing the TYMP gene in your blood to confirm you have two disease-causing mutations. Once the diagnosis is confirmed in you, your sister can then be tested to see if she has the same two TYMP gene mutations that you have. If she does not, it is possible that while she seems to look just like you that she is actually a fraternal (not identical) twin, as not uncommonly is the case. If she does, then it is not uncommon for there to be variation in MNGIE patients regarding the order of symptoms and the age at which they begin. However, should your testing reveal that you do not have MNGIE, then it will be worth pursuing the specific genetic cause for your suspected mitochondrial disease, since there are many different genetic disorders that can have similar symptoms and it would be important to clarify exactly what is the cause of your disease to better understand your own prognosis, therapeutic options, and familial recurrence risk. For example, a mutation or deletion in the mitochondrial DNA genome could certainly be the cause of multi-systemic mitochondrial disease in an adult, where variable heteroplasmy loads of that mutation could account for variable symptoms between family members.

Answered by: Marni J. Falk, MD, The Children's Hospital of Philadelphia

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Question:  I have just had cancer surgery and now the oncologist recommends follow-up radiation therapy. I understand that radiation is not good for mito patients, that radiation causes fatigue even in non-mito patients. The oncologist explained that the fatigue caused by radiation is due to cytokines that are generated by the treatment. Are these cytokines mito-toxic?

Answer:  I am sorry that you’re having to go through this tough time. I think you have to look at the long term picture, the use of radiation (given the protocols used to treat cancer) are likely beneficial for cancer control. The benefit here is longer and better quality of life, the risk is that radiation can do damage, not only to mitochondria but healthy cells in the area of the former cancer. I do not believe that cytokines have been absolutely proven to be mito-toxic but there is circumstantial evidence (viral illness inducing mitochondrial disease exacerbation) that they might be toxic. There is some recent evidence that certain medications can reduce the effects of tumor/cancer on energy levels but I do not think this has been translated to mitochondrial disease patients. I would take the benefit approach to radiation treatment and try to do the best in limiting the side effects of radiation. The outlook on your future, your mindset can make a big difference in outcome. One of my college professors, Dr. Norman Cousins at UCLA had cancer and his outlook and use of comedy films (especially the Marx Brothers movies) were his stable and he thought improved his outcome.

Answered by: Russell Saneto, DO, PhD

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Question:  I am 49 years old. I was diagnosed with mitochondrial myopathy 5 years ago, although I have had symptoms for 21 years. My balance has gotten worse to the point I must use a cane. I had some tests that showed the vertigo was coming from my Central Nervous System. I also have some hearing loss, kidney failure (lost one kidney to cancer some years ago), sleep apnea, seizures and increased BP and pulse rate. Many of these symptoms started very recently. Can these symptoms be attributed to worsening mitochondrial disease? What do you suggest I do?

Answer:  All of the symptoms you are describing are symptoms commonly seen in people with mitochondrial disease and unfortunately, most adult patients do tend to have worsening of their symptoms over time. My recommendation to you would be to do everything possible to optimize your health status. A good “check-up” at the PCP can go a long way towards improving how you feel. In your case specifically, make sure to control your seizures, have a sleep study and/or use CPAP to improve sleep quality, and see a cardiologist to assess your elevated blood pressure and heart rate. Additionally, I would suggest seeing a physical therapist to help you develop a safe, low-intensity exercise plan. Studies have shown that routine exercise can improve quality of life in people with mitochondrial disease. Lastly, ensure that you are taking adequate doses of CoEnzyme Q10. Although not proven effective, most people with mitochondrial disease describe benefits in energy levels with it.

Answered by: Mary Kay Koenig, MD

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Question:  I am a 43 year-old mail with LHON since age 17. My gene mutation is 11178. I've read on the LHON Yahoo Group email list that there is an "avoid list" of medications and substances that should be avoided by people with LHON. However, before sharing this list with my family doctor I would like to source it to a scholarly academic or scientific source. I've always been cautious about obtaining medical advice from non-doctors on the internet. Can you guide me to a source for such a list. I'm also concerned about knowing the underlying chemicals or substances that should be avoided and not just the brand name medications since different medications can all share common ingredients.

Answer:  For LHON, alcohol and tobacco (smoking) are the 2 specific triggering compounds; if all a person has is LHON, there is no need to follow other mitochondrial precautions strictly.

Answered by:  Sumit Parikh, MD

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Question:  I have a problem with oxygen processing and passing it on to the other cells needing it, a problem with ATP generation and on THREE major muscle biopsies they found red ragged fibers (RRF) on all three. Is it safe to assume these are related to the other mitochondrial issues? My cognitive abilities, endurance, cramps, stiffness and temp regulation have really increased 10 fold in the last six years and I am 48 year old man. I can no longer mow and if I vacuum I can only do one room. I have abdominal issues with heat or exercise and have had two cataracts removed. I can't stand to sit, stand or do anything for any extended period even though I try. I am perplexed by the RRF and the possible arachnoid cyst at the base of the neck. SSD has turned me down and I cannot get a job after 30 long years of working my tail off. I wanted to see if you had other input on the RRF and etc. I do have sleep disorders and Idiopathic Hypersomulance and can no longer drive and PLMD, apnea and bruxism and we do not know how this all ties together. Please help as I have a meeting in a few days I just found out about to discuss any options for being a contributor and earning smoe many as we are struggling. Regards

Answer:  I am sorry to hear about your energy problem. Red ragged fibers are found in normal muscle as we age. So, the presence of ragged red fibers does not indicate a mitochondrial disease, per se. The percentage of ragged red fibers is the key to suspect a diagnosis. If there is > 2% or so ragged red fibers after the age of 30 years then the suspicion increases for possible muscle disease. Did they find any other histochemical abnormalities on the muscle biopsies? Was there any biochemical testing on the muscle? Have you had any indication of muscle breakdown (elevated CPK levels)? Have you had biochemical labs that suggest that there might be a mitochondrial problem? Arachnoid cysts are usually benign, and are commonly seen. The usual treatment is just to watch and make sure they are not growing. For the most part, they do not cause problems. Does your PLMD keep you up at night? This might lead, in part, to your sleepiness. I would suggest a sleep study if you have not already had one. I am sorry that I cannot be of more help.

Answered by:  Russ Saneto, DO, PhD

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Question:  With a diagnosis of Mitochondrial MELAS, is it safe to have a bone scan?

Answer:  A bone scan can be valuable to look for delayed bone mineralization. Bone density is measured by a dexa scan that uses a very small amount of radiation. The usual areas looked at are lumbar regions and hips for bone density. Then a wrist and elbow X-ray is used to measure the bone age. We then look for age-related differences between the chronological age and the studies. In adults most just use the dexa scan for bone density as there are standard numbers in the adult age ranges. If a problem is encountered then we can use medications to help increase bone density and hence limit long term effects of poor bone mineralization. This would offset the risks of the radiation, which is minor to begin with.

Answered by:  Russ Saneto, DO, PhD

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