What is Mitochondrial Disease?
Mitochondrial disease is not one specific disease; rather it is a group of diseases caused by a mutation in the protein of mitochondria cells. The one characteristic that each of the various diseases has in common is that the mitochondria are unable to entirely burn fuels to produce energy. Mitochondria produce ninety percent of the energy necessary for the body to function properly by metabolizing food and oxygen. This energy conversion is the result of hundreds of chemical reactions within the cell. If these reactions do not run nearly perfectly, an energy crisis occurs and the cells fail to function normally. Essentially the body will not be able to produce the energy necessary for everyday unconscious body functions and activities. Over time, the incompletely burned fuel can build up within the body as poisons that can potentially act as free radicals, which interfere with other chemical reactions essential for the survival of the cells. (wishuponacure)
This group of diseases was first discovered post World War II and it was not until 1959 that the first patient was diagnosed with a “mitochondrial disorder.” Four years later Gottfried Schatz, an Austrian scientist discovered that Mitochondria have their own deoxyribonucleic acid (DNA). Researchers eventually learned that compared to the DNA found in the cell’s nucleus, mitochondrial DNA possesses virtually no capacity to protect the mitochondria from free radical damage and minimal repair abilities. (clevelandclinic)
There are presently more than forty different diseases that are classified until the title of Mitochondrial Disease (Mito). These disorders can occur in anyone of any age, any gender and any race. By the age of ten, 1 in 4000 American children will develop a mitochondrial disorder. Such disorders usually manifest in symptoms during early childhood, but the mutation can occur in adulthood also. Types of mitochondrial disorders are categorized according to which organ systems are affected as well as by the symptoms presented by the disease. (mitoaction)
No two patients are affected by Mito in exactly the same way. For some of the more fortunate patients, only one organ is affected, but it is common for multiple organ systems to be affected. The most common problems occur in “brain cells, nerves (including to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas.” (mitoaction)
There is a great variety in the type and severity of symptoms exhibited by patients. The severity of the disease ranges from mild symptoms to fatal. Characteristics of a mitochondrial disorder can include any combination of the following: poor growth, loss of muscle coordination and muscle weakness, visual and/or hearing problems, developmental delays and learning disabilities, mental retardation, disease of the heart, liver or kidneys, gastrointestinal disorders or severe constipation, respiratory disorders, diabetes, increased risk of infection, neurological problems, seizures, thyroid dysfunction, and dementia. (clevelandclinic)
There are presently more than forty different diseases that are classified until the title of Mitochondrial Disease (Mito). These disorders can occur in anyone of any age, any gender and any race. By the age of ten, 1 in 4000 American children will develop a mitochondrial disorder. Such disorders usually manifest in symptoms during early childhood, but the mutation can occur in adulthood also. Types of mitochondrial disorders are categorized according to which organ systems are affected as well as by the symptoms presented by the disease. (mitoaction)
No two patients are affected by Mito in exactly the same way. For some of the more fortunate patients, only one organ is affected, but it is common for multiple organ systems to be affected. The most common problems occur in “brain cells, nerves (including to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas.” (mitoaction)
There is a great variety in the type and severity of symptoms exhibited by patients. The severity of the disease ranges from mild symptoms to fatal. Characteristics of a mitochondrial disorder can include any combination of the following: poor growth, loss of muscle coordination and muscle weakness, visual and/or hearing problems, developmental delays and learning disabilities, mental retardation, disease of the heart, liver or kidneys, gastrointestinal disorders or severe constipation, respiratory disorders, diabetes, increased risk of infection, neurological problems, seizures, thyroid dysfunction, and dementia. (clevelandclinic)
Mitochondrial diseases are primarily hereditary diseases that are not confined to a specific sex or race of people. Anyone of any gender, of any race, of either gender can develop a mitochondrial disorder. In America, one thousand to four thousand children are born with a type of Mito every year and one in fourth thousand children will display symptoms of a mitochondrial disorder by the age of ten. The diseases are not limited to children. Several adult diseases such as diabetes, heart disease, Parkinson’s and Alzheimer’s are connected to a defect in the mitochondria. Therefore, a person can live for most of his or her life in perfect health only to have a mitochondrial disease reveal itself seventy years or more after birth. (clevelandclinic)
The majority of Mito patients inherited their conditions from their mothers, but an uncertain percentage of people acquire symptoms through other factors including toxins introduced to the mitochondria. (clevelandclinic)
For those who inherit the disease there are three causes. The first is a defect in the DNA contained within the cell’s nucleus (nDNA), which also referred to as autosomal inheritance. With this type of inheritance, it is possible for the patient to have siblings who do not have a form of Mito. There is only a twenty-five percent chance of a sibling inheriting Mito through recessive inheritance and a fifty percent chance through dominant inheritance. (clevelandclinic)
For the patients who inherit a defect in the DNA of their mitochondria (mtDNA) there is a one hundred percent chance of some trait of mitochondrial disease occurring in the DNA of their siblings. (clevelandclinic)
The final cause of inherited mitochondrial disease is a combined inheritance of defects within the patient’s mtDNA and nDNA. It is also safe to say that all siblings of a patient with the combination with also have Mito. However, regardless of which type of inheritance caused the disorder in a patient, the range in severity of Mito between siblings is as varied as between strangers. (clevelandclinic)
The majority of Mito patients inherited their conditions from their mothers, but an uncertain percentage of people acquire symptoms through other factors including toxins introduced to the mitochondria. (clevelandclinic)
For those who inherit the disease there are three causes. The first is a defect in the DNA contained within the cell’s nucleus (nDNA), which also referred to as autosomal inheritance. With this type of inheritance, it is possible for the patient to have siblings who do not have a form of Mito. There is only a twenty-five percent chance of a sibling inheriting Mito through recessive inheritance and a fifty percent chance through dominant inheritance. (clevelandclinic)
For the patients who inherit a defect in the DNA of their mitochondria (mtDNA) there is a one hundred percent chance of some trait of mitochondrial disease occurring in the DNA of their siblings. (clevelandclinic)
The final cause of inherited mitochondrial disease is a combined inheritance of defects within the patient’s mtDNA and nDNA. It is also safe to say that all siblings of a patient with the combination with also have Mito. However, regardless of which type of inheritance caused the disorder in a patient, the range in severity of Mito between siblings is as varied as between strangers. (clevelandclinic)
Though most patients develop mitochondrial disorders through their genetics, it is possible for toxins to cause various forms of the disease. Usually, medications are the cause of mutations in the mitochondria that lead to developing a mitochondrial disease. (clevelandclinic)
Because of the extreme diversity of the mitochondrial disorders as well as the invasive and time consuming nature of the diagnosis procedures, many patients of Mito go undiagnosed. Unfortunately, that means that the patient not only suffers from the symptoms, but the family suffers without answers. (wishuponacure)
A consequence of so many patients going undiagnosed is that it is difficult to get accurate statistics; especially in countries where those suffering with Mito lack the resources necessary to obtain a proper diagnosis. Even in America, it is difficult for patients to get a diagnosis because so few physicians are familiar with the disorder. There are only a few physicians who specialize in mitochondrial diseases, so if a patient is fortunate enough to find a doctor to provide an accurate diagnosis in the first place, they usually have to make frequent trips out of state to receive the necessary treatments. (Nicole Garman)
There is no cure for mitochondrial disorders. It is a chronic and usually a progressive disease, but with treatment it is possible to slow the process of cell death. The most common treatments used at present are various forms of vitamin therapy and energy conservation. Patients have to be careful to pace activities, keep up good nutrition, stay hydrated, avoid exposure to illness, and maintain an ambient environmental temperature. (mitoaction)
People suffering from mitochondrial disorders have to be extremely careful about conserving energy and staying healthy because if they have to use up extra energy to fight off infections or other illnesses, they are often not able to replenish that energy. Everyone who has been ill can attest to the fatigue that comes during and immediately after an illness, but the average person is able to ‘get back to normal’ fairly quickly, but for Mito patients, they may never regain the level of energy and activity they maintained before an illness. (mitoaction)
What is so difficult about this disease is that in most cases it is invisible, meaning that people, including doctors, cannot see anything wrong with Mito patients. Often parents seeking answers are thought to be crazy and have even had charges brought against them for their determination to find help for their seemingly healthy children. (Nicole Garman)
It is also hard for the general public to show sympathy for the sufferers of a mitochondrial disorder because so often they look just like the rest of us. When someone looks like you, it is natural to expect them to act like you and to be able to do the same basic things that you can do, but that is not always the case. In reality, some of the most severely disabled people look just like everyone else when it’s a good day. (Nicole Garman)
(written December 8th 2009)
Sources:
“About Mitochondrial Disease” Mitoction.org.
Garman, Nicole. INTERVIEW. 10 September 2009 (A mother whose children have Mito)
Garman, Nicole “Joshua and Michael Garman” caringbridge.org 20 November 2009.
“Mitochondrial Disease.” Clevelandclinic.org 2007. The Cleveland Clinic Foundation.
“The Facts About Mitochondrial Disease.” Wishuponacure.org 2007. David P. Campbell
Foundation.
Because of the extreme diversity of the mitochondrial disorders as well as the invasive and time consuming nature of the diagnosis procedures, many patients of Mito go undiagnosed. Unfortunately, that means that the patient not only suffers from the symptoms, but the family suffers without answers. (wishuponacure)
A consequence of so many patients going undiagnosed is that it is difficult to get accurate statistics; especially in countries where those suffering with Mito lack the resources necessary to obtain a proper diagnosis. Even in America, it is difficult for patients to get a diagnosis because so few physicians are familiar with the disorder. There are only a few physicians who specialize in mitochondrial diseases, so if a patient is fortunate enough to find a doctor to provide an accurate diagnosis in the first place, they usually have to make frequent trips out of state to receive the necessary treatments. (Nicole Garman)
There is no cure for mitochondrial disorders. It is a chronic and usually a progressive disease, but with treatment it is possible to slow the process of cell death. The most common treatments used at present are various forms of vitamin therapy and energy conservation. Patients have to be careful to pace activities, keep up good nutrition, stay hydrated, avoid exposure to illness, and maintain an ambient environmental temperature. (mitoaction)
People suffering from mitochondrial disorders have to be extremely careful about conserving energy and staying healthy because if they have to use up extra energy to fight off infections or other illnesses, they are often not able to replenish that energy. Everyone who has been ill can attest to the fatigue that comes during and immediately after an illness, but the average person is able to ‘get back to normal’ fairly quickly, but for Mito patients, they may never regain the level of energy and activity they maintained before an illness. (mitoaction)
What is so difficult about this disease is that in most cases it is invisible, meaning that people, including doctors, cannot see anything wrong with Mito patients. Often parents seeking answers are thought to be crazy and have even had charges brought against them for their determination to find help for their seemingly healthy children. (Nicole Garman)
It is also hard for the general public to show sympathy for the sufferers of a mitochondrial disorder because so often they look just like the rest of us. When someone looks like you, it is natural to expect them to act like you and to be able to do the same basic things that you can do, but that is not always the case. In reality, some of the most severely disabled people look just like everyone else when it’s a good day. (Nicole Garman)
(written December 8th 2009)
Sources:
“About Mitochondrial Disease” Mitoction.org.
Garman, Nicole. INTERVIEW. 10 September 2009 (A mother whose children have Mito)
Garman, Nicole “Joshua and Michael Garman” caringbridge.org 20 November 2009.
“Mitochondrial Disease.” Clevelandclinic.org 2007. The Cleveland Clinic Foundation.
“The Facts About Mitochondrial Disease.” Wishuponacure.org 2007. David P. Campbell
Foundation.