Foundation for Mitochondrial Medicine

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Foundation for Mitochondrial Medicine

Mitochondrial Disease and ALS (Lou Gehrig’s Disease)

Web of Connectivity - ALSMitochondrial disease can look like any number of better known diseases, including: AutismParkinson’s diseaseAlzheimer’s diseaseLou Gehrig’s disease (ALS), muscular dystrophy and chronic fatigue, among others. Adults and children with it can have features similar to other disorders like: Epilepsy, Myopathy, Developmental Delay, learning disabilities and Fibromyalgia.

Research shows that mitochondrial dysfunction is often a central element of these more commonly recognized diseases. Studies and reports indicate the “orange” ones are more influenced. A cure for mitochondrial disease could impact cures for Autism, Parkinson’s, Alzheimer’s and Muscular Dystrophy.

What is the role of the Mitochondria in ALS?

In ALS, evidence is building that actions on or originating in the mitochondria may be an important part of the disease. Changes in the mitochondria can be detected before one can find a physical change such as hind limb weakness in mice.

A role for mitochondria in ALS may explain why SOD1 mutant proteins selectively damage the motor neurons. Some recent studies suggest that mutant SOD1 protein builds up in the mitochondria, unlike normal SOD1 protein which is present throughout the cell but may not be in the mitochondria in healthy cells. This possible shift of mutant SOD1 into the mitochondria may be occurring in motor neurons and not in the liver and kidneys, some evidence suggests.

Mitochondria, as stated earlier, are also involved in the process called apoptosis, a deliberate removal of cells. Some investigators have found that mutant SOD1 attaches to key proteins involved in the cell death process further implicating mitochondria and apoptosis in ALS.

Frank physical damage to the mitochondria is evident in mice with some of the known SOD1 mutations. First, the organelles swell, then they develop empty spaces. Normal mitochondria consist of tightly folded membranes that provide a platform for the metabolic reactions that generate cellular fuel. After the empty spaces appear, the inner membranes of the mitochondria break apart.

The empty spaces appear in mitochondria early in the disease process in the mice. Other researchers have determined that a very early change in mice with mutant SOD1 is a slowing of mitochondrial reactions that provide energy to the cell.

ALS Association–funded researchers are working on all of the intriguing possibilities for a critical role of the mitochondria in ALS. It should be noted that these cellular fueling pumps are also implicated in such neurodegenerative diseases as Parkinson’s and Alzheimer’s.

Information about ALS and Mitochondrial Disease provided by The ALS Association and www.alsa.org.

What is ALS?

Amyotrophic lateral sclerosis (a-mi-oh-TROH-fik LAT-ur-ul skluh-ROH-sis), or ALS, is a serious neurological disease that causes muscle weakness, disability and eventually death. ALS is often called Lou Gehrig’s disease, after the famous baseball player who was diagnosed with it in 1939. In the U.S., ALS and motor neuron disease (MND) are sometimes used interchangeably.

ALS often begins with muscle twitching and weakness in an arm or leg, or with slurring of speech. Eventually, ALS affects your ability to control the muscles needed to move, speak, eat and breathe.

Prevalence:

Worldwide, ALS occurs in 1 to 3 people per 100,000. In the vast majority of cases — 90 to 95 percent — doctors don’t yet know why ALS occurs. About 5 to 10 percent of ALS cases are inherited. (Mayo Clinic)

ALS is a disorder that affects the function of nerves and muscles. Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with ALS each year. (That’s 15 new cases a day.) It is estimated that as many as 30,000 Americans have the disease at any given time.  According to the ALS CARE Database, 60% of the people with ALS in the Database are men and 93% of patients in the Database are Caucasian. (Information provided by The ALS Association Georgia Chapter)

 

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and the MANY Related Diseases!

 

April is Parkinson’s Awareness Month – Help Us Spread the Word!

Parkinson’s disease is a degenerative, movement disorder of the central nervous system that results from the loss of cells in various parts of the brain.

In part, this disease is caused by an energy loss from malfunctioning mitochondria.  Mitochondria, are the body’s energy factories.  Brain cells are energy hogs, making up about 2 percent of body weight, yet consuming about 20 percent of the body’s energy.

On Wednesday, April 6, 2016 the Foundation for Mitochondrial Medicine hosted a Hope Flies Health Series Webinar focused on the connections between Parkinson’s and Mitochondrial Disease.

Share this video with someone you know connected to Parkinson’s.

Parkinson’s disease

What is Parkinson’s disease?

Parkinson’s disease is a progressive, neurodegenerative movement disorder. It worsens over time, and it is caused by the degeneration of nerve cells in the brain. The most prominent symptoms of Parkinson’s disease affect movement, although many other symptoms may also occur, some of which can be even more disabling than the movement symptoms.

Prevalence:

1 in 500 people (CDC). An estimated 500,000 to 1 million people in the United States are living with Parkinson’s disease.

What is the role of mitochondrial dysfunction in Parkinson’s disease?

parkinsons-disease-webScientists have accrued a large body of evidence confirming that mitochondria play an important role in the development of Parkinson’s disease. The most prominent symptoms of Parkinson’s disease are muscle trembling and weakness, which then progress to muscle immobility. These symptoms are the result of a decline of dopamine in the brain, which occurs as a result of loss of neurons that produce this vital neurotransmitter.

 

Mutations to mitochondria directly affect a cell’s ability to make dopamine. Damaged mitochondria can negatively influence neurons – including those that produce dopamine – in many ways. For example, they can cause overproduction of free radicals that can damage the cells; they can affect calcium regulation within the cells and the intracellular spaces, which directly affects neuronal health; they can create problems with axonal transport (the way nerve cells communicate with each other); and they can cause cell death. All of these aspects can contribute to malfunction or death of dopamine-producing neurons.

Mutations to mitochondria can occur through exposure to environmental toxins, such as medications or pesticides, or they can occur as a result of genetics – both inherited and acquired mutations. To further complicate the interplay between mitochondria and Parkinson’s disease, pathways of disease can affect mitochondria directly, such as through direct genetic mutations, or indirectly, by affecting a substance upstream from the mitochondria that interferes with its normal functioning.

The economic impact of Parkinson’s disease is significant. The National Institute of Neurological Disorders and Stroke (NINDS) estimates that Parkinson’s disease carries an annual cost of over $5.6 billion to our society, including both direct medical expenses and indirect costs such as lost income, disability payments and medical costs.

Emerging Science

Parkinson’s disease (PD) is a common and disabling neurodegenerative disease marked by progressive motor dysfunction, which results from selective degeneration of the nigrostriatal pathway. Complex I defects may result in oxidative stress and increase the susceptibility of neurons to excitotoxic death. In this way, environmental exposures and mitochondrial dysfunction may interact and result in neurodegeneration.

Recent findings implicate mitochondrial dysfunction, oxidative damage, abnormal protein accumulation and protein phosphorylation as key molecular mechanisms compromising dopamine neuronal function and survival as the underlying cause of pathogenesis in both sporadic and familial PD.

Treatment research:

Mitochondrial dysfunction may not be the only cause of Parkinson’s disease, but interventions focused on improving mitochondrial function are showing positive progress. Several studies have been performed using agents that influence mitochondrial function, including the use of dopamine agonists (similar to dopamine) and Coenzyme Q10 to replace or boost the function of the patient’s mitochondria. Researchers also are exploring different avenues of treatment for individuals with Parkinson’s disease in which mitochondrial dysfunction has been noted. Current treatment relies on the replacement of dopamine. However, this does not reverse the loss of neurons or further progression of the disease. Researchers are targeting mitochondrial function as a way to alter this key component of the disease.

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World Autism Awareness Day – FMM is Raising Awareness

Did You Know… Autism and Mitochondrial Disease are Related

Many genes are contributors to autism, but are not the cause.  Over 800 genes are contributors.  It’s a whole body condition.  In many autism cases it is a whole-body condition, where more than one system is affected and this is consistent with mitochondrial issues.  There is evidence for environmental impacts. Visible and social behavior represent symptoms of underlying systemic disturbances, including metabolism.

In 2012, The Foundation for Mitochondrial Medicine hosted a Hope Flies Health Series and featured Dr. Martha Herbert from Harvard University & Massachusetts General Hospital in Boston to speak on the link between Autism and Mitochondrial Disease.

Overview of the Autism Connection to Mitochondrial Dysfunction:
autism-disease-webMitochondrial disease and dysfunction are more common in ASD (Autism Spectrum Disorder) patients than the general population.  (~7%)

Mitochondria are exceedingly environmentally vulnerable to many things.

Inflammation and oxidative stress often go with mitochondrial dysfunction which is common with autism.  Brain function and synapses need energy.  Less energy  leads to weaker signals.  Weaker signals lead to weaker, smaller brain networks.  Mito dysfunction leads to excitoxicity , noisier, more inefficient synapses.  The result of inefficient, wasteful, poorly focused synapses means showing up as good and bad days, just like the flickering of electricity or a power plant.

In some mitochondrial disease patients autism symptoms show up on rougher days but not on calm/easy days. These folks may be balanced on a razor edge of mitochondrial dysfunction.  This suggests that mitochondrial problems may contribute to how the brain “creates” autistic behaviors.

Help FMM Make a Difference.  Make a donation and help us fund the cures for mitochondrial disease and all of the related diseases!

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20 Days of Glow – Day 9 – The Link between Parkinson’s and Mitochondrial Disease

Parkinson’s disease is a degenerative, movement disorder of the central nervous system that results from the loss of cells in various parts of the brain.

In part, this disease is caused by an energy loss from malfunctioning mitochondria.  Mitochondria, are the body’s energy factories.  Brain cells are energy hogs, making up about 2 percent of body weight, yet consuming about 20 percent of the body’s energy.

Watch Dr. Zbigniew Wszolek of the Mayo Clinic, Jacksonville describe the importance of mitochondrial dysfunction in Parkinson’s Disease.

Get Your Glow On: Share this video with someone
you know connected to Parkinson’s.

#20DaysofGlow

Parkinson’s disease is clinically characterized by resting tremor, bradykinesia, (slowness of movement) rigidity, and postural instability, asymmetrical and these features are responsive to L-dopa therapy.   Many other clinical symptoms such as non-motor symptoms such as sleep disorders, autonomic dysfunctions, and cognitive abnormalities are also cardinal features.

parkinsons-disease-webParkinson’s is common. 1.0-1.5 million in the US are suffering from Parkinson’s. Pathologically, it is defined by a loss of neurons in the substania nigria part of the brain. These neurons are like a pacemaker for the brain, they fire 200 times per second and they have an enormous need for energy which comes from mitochondria.  These neurons have a very strict connection to mitochondria.

Progress over the last 15 years has come from genetics.  Over 18 different loci and chromosomes have been identified that have mutations which produce Parkinson’s disease and some mutations in these genes produce abnormalities in functions of mitochondria—nuclear DNA.  Those genes act through different pathways and mechanisms and need energy and the lack of the energy produce mitochondrial dysfunction and in turn Parkinson’s disease.

Mitochondrial are very sensitive to environmental toxins.  High exposure of the toxins can result in Parkinson’s.  Those toxins work on mitochondria.  The end result of Parkinson’s comes from two sides:  genetic and environment.  The future will be to find out what is producing the disease.

Treatments on the Horizon
Non-pharmacological therapy such as physical exercise, occupational therapy and speech therapy have small effects. Treatments of symptomic nature, but right now there are no cures.  Pharmacological therapy includes Levadopa (the replacement of dopamine), dopamine agonists (compound that activates dopamine receptors in the absence of dopamine), and dopamine inhibitors (type of drug that acts as a reuptake inhibitor for the neurotransmitter dopamine by blocking the action of the dopamine transporter). Surgical therapy includes deep brain stimulation and pallidotomy (A surgical procedure that destroys a small part of a tiny structure within the brain called the globus pallidus internus that is part of the basal ganglia, a part of the brain involved in the control of voluntary movement of the muscles). All of these treatments have been proven to work to a certain extent on most patients.

Researchers Hoping to Redefine Chronic Fatigue Syndrome

Chronic FatigueChronic Fatigue Syndrome (CFS) is a largely misunderstood disease, with at least one million in the United States affected. The crux of what makes this disease difficult to diagnose and treat is the lack of testable symptoms. Symptoms include pain, extreme fatigue and brain fog. What makes CFS distinguished from typical aches and pains is the presence of these symptoms for at least six consecutive months.

A recent study led by Yasuyoshi Watanabe, the director of the RIKEN Center for Life Science Technologies shed some light on the causes of CFS. They used PET scans of the brain and found increases in inflammation in certain parts of the brain in Chronic Fatigue Syndrome patients, results they published in the Journal of Nuclear Medicine. This recent study offers hope for a new one established by the Institute of Medicine.

Dr. Yasuyoshi Watanabe

Dr. Yasuyoshi Watanabe

The Institute of Medicine study plans to synthesize information about this mysterious disease to improve diagnostic techniques. IOM hopes to provide a unified definition with a specific set of diagnostic tools for patients suffering from Chronic Fatigue Syndrome; the purpose of this study is not to provide new treatments for this disorder. However, given that one of the major difficulties of patients suffering from invisible diseases is getting a diagnosis, the IOM study provides hope for patients and doctors struggling to make sense of this disorder.

To learn more about Chronic Fatigue Syndrome, click here.

Did You Know… Mitochondrial Disease and Chronic Fatigue Syndrome are Related?

Web of ConnectivityMitochondrial disease can look like any number of better known diseases, including: AutismParkinson’s disease,Alzheimer’s diseaseLou Gehrig’s diseasemuscular dystrophy and chronic fatigue, among others. Adults and children with it can have features similar to other disorders like: Epilepsy, Myopathy, Developmental Delay, learning disabilities and Fibromyalgia.

Research shows that mitochondrial dysfunction is often a central element of these more commonly recognized diseases. Studies and reports indicate the “orange” ones are more influenced. A cure for mitochondrial disease could impact cures for Autism, Parkinson’s, Alzheimer’s and Muscular Dystrophy.

Learn More

40 Days of Glow: Day 13 – What If??

What If

What if some of the most common diseases and conditions that affect us and those we love, including Parkinson’s and Alzheimer’s diseases, autism and muscular dystrophy, diabetes and cancer, had similar underlying causes? What if we could detect and fix those underlying problems before they could manifest themselves as disease? Or, what if we could retroactively supply the missing genetic or chemical ingredients to treat those diseases after they do occur?  Learn More by reading the white paper below.

Web of Connectivity

The good news is that those “what if” questions are becoming statements of fact in laboratories and medical centers around the world.

That’s because the answer, or at least one of the answers, to these vexing health conditions can be found in tiny organelles called mitochondria that reside in almost every cell in our bodies. Research over the past 25 years  – a mere blip in time for medical research – has shown that problems with mitochondria may cause or contribute to many of the diseases and conditions that limit growth and potential, diminish quality of life, and lead to the utilization of millions of dollars in treatments and therapies.

As scientists have learned more about the mitochondria’s role in health and in disease, they have concluded that mitochondrial dysfunction is at the root of diseases and conditions that affect the young and the old, in ways that can range from subtle to devastating, and is even responsible for the aging process itself. The list of known diseases and conditions with a mitochondrial dysfunction component is long – and growing longer. In fact, research suggests that mitochondrial function may be the unifying theme – the Holy Grail of medicine, perhaps – of understanding a spectrum of diseases, conditions, and why we grow old.

How common is mitochondrial dysfunction?
If you have seen a person with Parkinson’s disease, Huntington’s disease, Alzheimer’s disease, or amyotrophic lateral sclerosis (ALS), you have encountered mitochondrial dysfunction. If you have met a child with autism, Asperger’s syndrome, or epilepsy, mitochondrial dysfunction may be already affecting their developing brains. For these individuals, time is of the essence in developing therapies because once symptoms are apparent, mitochondrial dysfunction has already contributed to significant health issues. In these patients, recognizing and treating mitochondrial dysfunction now is essential.

Diabetes and Mitochondrial Disease

Did You Know…
diabetes-disease-webMitochondrial disease can look like any number of better known diseases, including: AutismParkinson’s diseaseAlzheimer’s diseaseLou Gehrig’s disease (ALS), muscular dystrophy, diabetes and chronic fatigue, among others. Adults and children with it can have features similar to other disorders like: Epilepsy, Myopathy, Developmental Delay, learning disabilities and Fibromyalgia.

The Relationship Between Diabetes and Mitochondrial Dysfunction:
Researchers at the University of Granada, La Paz University Hospital, and the University of Texas, found that melatonin can increase mitochondrial function in obese rats. Obese rats are used to model type 2 diabetes mellitus.

Mitochondrial dysfunction plays a part in diabetes. Patients who suffer from type 2 diabetes experience a decreased size, number and efficiency of mitochondria. This affects cells throughout the body. In diabetes, mitochondria enable insulin release from pancreatic beta cells. There is a direct link between mitochondrial production of ATP and insulin secretion. (Learn More)

The study compared the mitochondrial function in eight diabetic rats against eight healthy ones. Mitochondrial function was observed in both the healthy and obese rats who had received melatonin-enhanced drinking water.

Melatonin is a hormone associated with sleep; production of the hormone depends on the amount of light in a person’s living environment. The increase in artificial light matches the increase in obesity trends across nations. Obesity inhibits mitochondrial function by affecting insulin production and release, the hallmark of diabetes.

CLICK HERE to read the complete article.

November is Diabetes Awareness Month!  Share this article with friends and family to help us raise awareness about mitochondrial disease and all of the related diseases!

 

 

Researchers Fight for Alzheimer’s Cure

Alzheimer’s disease is the nation’s sixth leading cause of death and is predicted to affect 15 million elderly Americans by 2050.

Charles DeCarliCharles DeCarli is a neurologist and Alzheimer’s Disease Center director at UC Davis. Their clinic sees both patients and research study participants. They use a wide variety of treatments to attempt to stymie the damage this disease causes to the brain. The damage Alzheimer’s disease causes to the brain are startling.

According to Alz.org, brain atrophy is a prominent symptom in those affect. Parts of the brain that deal with memory and thought formation shrink, while fluid-filled spaces of the brain become larger.

DeCarli prescribes medications like Aricept and Nemenda, medications specifically geared to slowly memory loss in dementia associated with Alzheimer’s disease. However, the clinic is focusing on alternative methods of treatment to slow memory loss. Their clinic offers classes like Brain Fitness 101 to offer treatments emphasizing a healthy diet and brain exercises that can only postpone the decline in cognition.

alzheimer_brain

The recent recession caused California, already the nation’s leader in researching Alzheimer’s disease, to cut funding to centers like the one DeCarli works. Despite the fact Alzheimer’s disease or other forms of dementia affect 1 in 3 seniors funding for this disease pales in comparison to diseases like cancer. Cancer researchers receive about $5 billion by the federal government each year, while Alzheimer’s researchers receive about $560 million.

DeCarli evaluates the research participants on a monthly basis, attempting to identify patterns in his patients’ deterioration. One of the more difficult parts of dealing with Alzheimer’s is noting the stages it attacks the brain. Working against a limited budget and time, his clinic uses autopsies of patients in an attempt to make sense of the way it affects research participants.

Alzheimer’s research is still greatly underfunded. You can make a difference by donating today.

What is the role of mitochondrial dysfunction in Alzheimer’s disease?

Mitochondrial dysfunction has surfaced as one of the most discussed hypotheses associated with the etiology and underlying disease components of Alzheimer’s disease.2 Mitochondria assume central functions in the cell, including ATP production, calcium homeostasis, reactive oxygen species generation, and apoptotic signaling. Although their role in the cause of Alzheimer’s disease may be controversial, there is no doubt that mitochondrial dysfunction, abnormal mitochondrial dynamics and degradation by mitophagy occur during the disease process, contributing to the onset and progression of Alzheimer’s disease.

Learn More

FMM Observes Chronic Fatigue Syndrome Awareness Day

Chronic Fatigue SyndromeChronic Fatigue Syndrome (CFS) is a serious, debilitating medical condition. The name of the illness does not adequately reflect its complexity. In addition to severe fatigue, individuals with CFS experience cognitive problems, pain in the muscles and joints, tender lymph nodes, headaches and many other symptoms.

Today, the Foundation for Mitochondrial Medicine is observing Chronic Fatigue Syndrome Awareness Day, which began in 1992. The date of May 12 was chosen to honor the birthday of Florence Nightingale, the English army nurse who was a pioneer of the Red Cross Movement. Nightingale was practically bedridden with a painful and fatiguing illness resembling fibromyalgia or Chronic Fatigue Syndrome, yet went on to inspiring accomplishments, including the founding of the first School of Nursing.

Chronic Fatigue

One of the most difficult aspects of having CFS or fibromyalgia is that most of the symptoms are invisible, which makes it hard for others to understand what living with these debilitating illnesses is really like.

There is currently no known cause or cure for CFS; however, scientists have identified numerous biological abnormalities in CFS patients. One leading theory is that the illness is rooted in the immune system, endocrine system and central nervous system. When any of these systems is activated, the others are affected.

CFS is under diagnosed. Fewer than 10 percent of people with CFS have been diagnosed by a medical professional, and more than 90 percent remain ill with little or no medical treatment. CFS is often misdiagnosed because it can mimic many other disorders, including multiple sclerosis, Lyme disease and lupus.

In the name of all of those with Chronic Fatigue Syndrome and mitochondrial disease, join our effort in funding a cure. 

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Recognizing the Importance Parkinson’s Awareness Month

ParkinsonsFMM recognizes the importance of continued Parkinson’s disease research, education, programs and support groups, as April marks Parkinson’s Awareness Month.

Parkinson’s disease is a progressive, neurodegenerative movement disorder. It worsens over time, and it is caused by the degeneration of nerve cells in the brain. The most prominent symptoms of Parkinson’s disease affect movement, although many other symptoms may also occur, some of which can be even more disabling than the movement symptoms.

Affecting approximately 1,000,000 Americans, and 10,000,000 million worldwide, Parkinson’s disease is a chronic progressive neurological disorder that takes an enormous physical, psychological and emotional toll on patients and their families.

Goals of Parkinson’s Disease Awareness Month

  • Supports the designation of April as Parkinson’s Awareness Month across the country
  • Continues to support research to find better treatments, and eventually, a cure for Parkinson’s disease
  • Recognizes the people living with Parkinson’s, and those who participate in vital clinical trials to advance the knowledge of the disease

To learn more about Parkinson’s Awareness Month and disease related information visit:

 Micheal J. Fox Foundation

Wilkins Parkins Foundation

Parkinson’s Foundation

Parkinson’s Awareness Month presents an important opportunity to become better informed and to educate others about this neurological disorder. As our society continues to age, the number of individuals with Parkinson’s disease is expected to grow.

parkinsons-disease-webMitochondrial Dysfunction and Parkinson’s Disease:
Scientists have accrued a large body of evidence confirming that mitochondria play an important role in the development of Parkinson’s disease. The most prominent symptoms of Parkinson’s disease are muscle trembling and weakness, which then progress to muscle immobility. These symptoms are the result of a decline of dopamine in the brain, which occurs as a result of loss of neurons that produce this vital neurotransmitter.

To learn more about how Parkinson’s disease and how it is related to mitochondrial disease, visit hopeflies.org.

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