From ... in Awareness Alternative News — Mar 17, 2014

Some Doctors Don’t Believe In This Disease Yet It Predisposes Many Diseases

The tragic case of Justina Pelletier has been in the news quite a bit lately.

Justina Pelletier is the teen (14 when her ordeal started, 15 now) who is at the center of a nasty custody battle between her parents and Boston Children’s Hospital. Boston Children’s Hospital and the Massachusetts Department of Children and Families have taken custody of Justina, against the will of her parents, because they assert that Justina’s health problems are psychosomatic and that Justina’s parents are guilty of medical abuse. Justina’s parents, on the other hand, assert that Boston Children’s Hospital has kidnapped their daughter and that Justina is in need of medical care for her mitochondrial disorder. Hundreds of news stories and blog posts have been written about Justina’s case. One of the best articles that I’ve read about the horrible, tragic situation that Justina is caught in the middle of is “A Medical Collision with a Child in the Middle” in The Boston Globe. The Boston Globe article, and many others, have given a good overview of Justina’s situation, but they have given very little information about the condition which Justina’s parents say she has and the Boston Children’s Hospital doctors deny exists – mitochondrial disease. This post is to give some basic, introductory information about mitochondrial disease – a topic that most journalists and bloggers who have been writing about the case have glossed over, and a topic that some of the doctors in Justine’s case are woefully ignorant of. (A doctor who Justine Pelletier sought help from “didn’t believe” in mitochondrial diseases) Mitochondria 101 Mitochondria are the energy centers of the cells. They are found in almost every cell in the human body and they produce more than 90% of cellular energy through the generation of ATP (Adenosine Triphosphate). Mitochondria also play key roles in cellular processes including “calcium, copper and iron homeostatis; heme and iron-sulfer cluster assembly; synthesis of pyrimidines and steroids; thermogenesis and fever response; and calcium signaling” (1) and additionally produce ROS (reactive oxygen species) (2), which play key roles in regulating and determining apoptosis (programmed cell death), as well as signaling communication between cells and tissues. (3) Mitochondria have their own DNA, mtDNA, which is separate from the nuclear DNA of the cell. Proper function of mitochondria is vital for all areas of health. A hallmark of mitochondrial dysfunction is crippling fatigue and exhaustion. Because mitochondria are the energy centers of cells, when they are not operating properly patients are unable to do things that require energy. It is an organic, physical lack of energy, not a choice not to get out of bed or run around the block. Mito Action lists poor growth, loss of muscle coordination, muscle weakness, neurological problems, seizures, autism, visual and/or hearing problems, developmental delays, learning disabilities, heart disease, liver disease, kidney disease, GI disorders, diabetes, increased risk of infection, thyroid dysfunction, adrenal dysfunction, autonomic dysfunction and neuropsychological changes as symptoms of mitochondrial diseases. When mitochondria are not functioning properly, multiple disease states can ensue. According to Dr. Richard Boles, Director of the Metabolic and Mitochondrial Disorders Clinic at Children’s Hospital Los Angeles: “these are partial defects. Mitochondrial dysfunction doesn’t really cause anything, what it does is predisposes towards seemingly everything. It’s one of many risk factors in multifactorial disease. It can predispose towards epilepsy, chronic fatigue, and even autism, but it doesn’t do it alone. It does it in combination with other factors, which is why in a family with a single mutation going through the family, everyone in the family is affected in a different way. Because it predisposes for disease throughout the entire system.” (source: Hormones Matter) It makes sense that when the energy centers of cells are not functioning properly, the body starts to shut down, and when the body shuts down on a cellular level, multi-symptom, diffuse illnesses result. Mitochondrial Diseases There are three basic categories of mitochondrial disease: 1) Diseases that are recognized as verified mitochondrial diseases, 2) Diseases that there is a large amount of evidence that links them to mitochondrial dysfunction, but are not generally recognized as mitochondrial diseases, and 3) Diseases that are indirectly related to mitochondrial function.

The first category of mitochondrial diseases, those that are verified and acknowledged as mitochondrial diseases include: These diseases are matrilineally inherited (mtDNA is passed down through the mother) and involve recognized mtDNA mutations. The prognosis for many with these diseases is, sadly, poor, and there are “currently no pharmaceutical cures for any mitochondrial diseases.” (3) “Although individually rare, diseases caused by mtDNA and nDNA mutations are estimated to collectively have an incidence of ~1/4000 individuals.” (1) Interestingly, “a number of human mitochondrial genetic diseases that are clinically discreet are being diagnosed at unexpected rates.” (4) A possible explanation for an unexpected increase in hereditary mitochondrial diseases is that some of the environmental toxicants and pharmaceuticals that damage mitochondria have been shown to deplete mtDNA (5), and that depleted mtDNA may be passed from a mother on to a child.

The second category of mitochondrial diseases are diseases that are typically categorized as “mysterious diseases” of modernity. These diseases have increased in prevalence significantly over the past 50 years. They are controversial and their existence is denied by many. Patients suffering from these diseases struggle to have their health problems acknowledged as having a physical cause, and are often accused of making things up or having a somatoform disorder, “a psychiatric condition when a person experiences physical pain for which no known medical explanation can be found.” The exact cause of these diseases is officially unknown and there are many theories as to their origins. There is much evidence, however, that these diseases at least feature, and are possibly (probably) caused by, mitochondrial dysfunction and oxidative stress (which occurs in mitochondria as a result of mitochondrial stress, damage or injury). All of the sources linked to are peer-reviewed. Yet, these diseases are still woefully under-acknowledged and people, including doctors, seem to feel that they are at liberty to “not believe” in them.

There are a couple of reasons for disbelief in these diseases. First, tests do not currently exist which can reliably determine the existence of these diseases. An unfortunately common attitude in medicine is, “if it doesn’t show up on the tests, it doesn’t exist.” Second, they are diseases of modernity, so there is little history from which to gather information on them.

The link between these mysterious diseases and mitochondrial damage and oxidative stress has been ignored. This intentional ignorance is likely caused by the notion that if it is admitted that mitochondrial damage and oxidative stress are the causes of these diseases, the question may be asked, “what causes mitochondrial damage and oxidative stress?” The answer is one that doctors, and anyone else who believes that the current medical system causes more good than harm, doesn’t want to admit – pharmaceuticals and environmental toxins are the causes of mitochondrial damage and oxidative stress. (1, 20) Chemicals in our drugs and in our environment are causing damage to our mitochondria, which are, in turn, causing multi-symptom, chronic, mysterious illnesses that afflict millions of people. Offending drugs that cause mitochondrial damage include bactericidal antibiotics (15), statins (17), chemotherapy drugs (1), acetaminophen (4), metformin (a diabetes drug) (19), and others. Disease states caused by chemical harm to mitochondria are often delayed and can involve a threshold of harm to the mitochondria (4), so it is often difficult to connect the mitochondria damaging chemical to the disease state.

The third category of mitochondrial diseases are those that are indirectly related to mitochondrial function. Per a Review entitled, “Medication-induced Mitochondrial Damage and Disease,” the following diseases are related to mitochondrial damage: “Damage to mitochondria is now understood to play a role in the pathogenesis of a wide range of seemingly unrelated disorders such as schizophrenia, bipolar disease, dementia, Alzheimer’s disease, epilepsy, migraine headaches, strokes, neuropathic pain, Parkinson’s disease, ataxia, transient ischemic attack, cardiomyopathy, coronary artery disease, chronic fatigue syndrome, fibromyalgia, retinitis pigmentosa, diabetes, hepatitis C, and primary biliary cirrhosis.” These diseases are often associated with old age (1) but they are afflicting younger and younger people over the past couple of decades.

The Regulatory Agencies are Failing to Protect our Mitochondria Seeing as mitochondrial health is related to almost every chronic disease there is, it wouldn’t be too much to expect for the FDA and EPA to regularly look at the effects of drugs and environmental toxins on mitochondria when determining the safety of drugs and chemicals that humans come into contact with. However, “mitochondrial toxicity testing is still not required by the US FDA for drug approval.” (20) The researchers who wrote the review entitled “Mitochondria as a Target of Environmental Toxicants” in 2013, noted that, “The existence of so many mitochondrial diseases illustrates the critical importance of maintenance of mitochondrial and mtDNA integrity for health. It also raises an important question with implications for environment-mediated mitochondrial toxicity: Why did it take us so long to realize that many diseases are in fact mitochondrial diseases?” (1) Good question. Ignorance surrounding mitochondrial diseases can be explained by noting the following: The ignorant, foolish doctor who “didn’t believe in mitochondrial disease” may want to note that: “Mitochondrial function and behavior are central to the physiology of humans and, consequently, ‘mitochondrial dysfunction’ has been implicated in a wide range of diseases that encompass all aspects of medicine.” (3) It is time for those in the medical profession to stop ignoring the role of mitochondria in modern, chronic diseases. The answers to preventing and fixing modern, chronic illnesses lie in the mitochondria. Neither the questions nor the answers may be pleasant or convenient, but they are true and honest ones. Cells don’t lie. And the evidence against pharmaceutical and environmental toxicants that damage mitochondria is damning. Post Script: The author’s mitochondria were damaged by a prescription antibiotic, Cipro/Ciprofloxacin, a fluoroquinolone antibiotic. Her blog, describing her story, and road to healing, is www.floxiehope.com. Peer Reviewed Sources: .

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Some Doctors Don’t Believe In This Disease Yet It Predisposes Many Diseases

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