Just thought I would let everyone know that we are planning a impromptu event planning meeting. ANYONE who would like to join us is more than welcome, too! Only request, please bring your creative energy with you!! The meeting is scheduled for this Wednesday, June 23rd @ 5:30pm. Please e-mail me if you are interested in attending, mldewitt729@yahoo.com.
Thanks!
Michelle
Monday, June 22, 2009
Wednesday, June 17, 2009
Tuesday, June 16, 2009
Another way to support the cause....
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The United Mitochondrial Disease Foundationwould like to formally announce our new partnership withWe now have our own personal shopping mall listed online at http://www.givebackamerica.com/charity.php?b=714GiveBackAmerica.org is an online shopping mall created to raise money for charities. The concept is simple...every time you shop with your favorite online retailer (ex. Target, Expedia, Amazon, eBay), a percentage of each purchase goes to your favorite charity.Here's how you can begin using it today...
INDIVIDUALS
WORKPLACE
1) Use GiveBackAmerica.org everytime you shop online!
1) Encourage co-workers to use GiveBackAmerica.org!
2) Tell your friends about the shopping mall using the GiveBackAmerica.org "Six Degrees of Giving Program."
2) Book company travel online through the online mall (Ex. Expedia or Travelocity).
3) Save the UMDF's GiveBackAmerica shopping page to your favorites!
3) Order office supplies through Staples, OfficeMax or OfficeDepot.
This is a great opportunity to raise money for life-saving research. Please remember to use GiveBackAmerica.org everytime you shop online. It can make a difference in the lives of thousands of individuals living with mitochondrial disease!
"Every 30 minutes, a child is born who will develop a mitochondrial diseaes by age 10."
The United Mitochondrial Disease Foundation8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-Free: 888-317-8633
F: 412-793-6477.
Monday, June 15, 2009
Date Confirmed!
The date has been confirmed, September 12th! The location is Cedar Springs, MI. I will have more details to come later, but I have a request. I'm in need of people to start looking for items that can be donated for raffle prizes. Everything from small to big items are needed and the more the merrier! Don't worry I will be doing my part, too, but I'm sure as a whole we can make a much larger impact!!
For those of you that haven't seen the picture to the left was a cake that our son, Easton, and his beloved nanny, Molly, made last Friday as a awesome surprise for us!! He is the best big brother!
Friday, June 12, 2009
Taylor's Story
June 12, 2009
Our beautiful little Taylor was born on April 23rd, 2004. Many ultrasounds had prepared us for the fact that she was going to be a small baby, but all other prenatal testing done had come back negative for anything wrong. Delivery was uncomplicated, and out came our little 4 lb 15 oz baby girl. Right away I had the feeling that something was not right. Feeding was poor from the beginning, and it was soon discovered that her soft palate had a cleft. I asked for a genetics consult, but we were assured by doctors that everything was fine.
Over the course of the next several months, feeding and weight gain continued to be poor; severe reflux developed, and we had to start tube feeds. A heart murmur was heard at her two month check-up, which led to a diagnosis of a bicuspid aortic valve. At this point, Taylor was referred for a genetics consult. A routine chromosome analysis was done and was found to be normal. We still had no answers.
Taylor’s tone became more hypotonic as time passed and her developmental delays became more apparent. She also started having myoclonic jerks after she turned a year old, which made us suspicious for seizures, even though an EEG came back normal. It was also discovered that her kidneys were small for her age.
Metabolic testing was done when Taylor was one and half years old and came back showing a carnitine deficiency. After discussion with her local pediatric neurologist, we decided to pursue a muscle biopsy to look for mitochondrial disease. Several months after this was done, the results came back indeed showing a mitochondrial dysfunction – an Electron Transport Chain Complex II and III deficiency.
We finally had an explanation for the low muscle tone, seizures, poor feeding, poor growth, developmental delays, etc. We were finally able to join a local support group – the West Michigan Mito Group - and were able to talk to other parents who knew what we were facing. We finally had resources available to us, and we were also able to start Taylor on treatment, (carnitine and a mitochondrial cocktail containing high doses of B vitamins and CoQ10.)
Shortly before Taylor’s third birthday, we were led to a consult with a pediatric neurologist at the Cleveland Clinic, who specializes in mitochondrial disease. This neurologist explained to us the various ways in which mitochondrial disease can occur, either as a primary disorder or as a secondary disorder. (As a secondary disorder, there is another primary disease that causes it.) He felt that Taylor’s case was a secondary disorder, most likely being caused by a still undiagnosed genetic disorder.
This neurologist ordered a higher resolution chromosome test, known as a chromosome microarray, and we soon had our answer: an unbalanced translocation on chromosomes 4 and 8. Taylor has missing material from the short arm of chromosome 4 (4p-) and extra material of the short arm of chromosome 8 (8p+). The missing material from chromosome 4 gives her the diagnosis of Wolf-Hirschhorn Syndrome (WHS).
After having a consult with the geneticist at the Cleveland Clinic, we learned that there is a gene located on (Taylor’s missing area of) chromosome 4 that is important to mitochondrial function. The gene is known as LETM1. Taylor is the first known case of someone being diagnosed with both Wolf-Hirschhorn Syndrome and mitochondrial disease. However, the geneticist told us that mitochondrial dysfunction is probably something that is prevalent in most cases of WHS, due to the missing LETM1 gene in the syndrome.
Taylor is now five years old, and she loves life. She attends a special ed preschool program at Ken-O-Sha and absolutely loves it. She is mainly non-verbal, but she has recently started to babble a lot more and is always learning new signs. Her favorite verbal words are “mama”, “yeah”, and “uh-oh!” Shortly after her fourth birthday, Taylor started walking independently - something we weren’t sure if she’d ever be able to do. Taylor has overcome so many obstacles in her life thus far and continues to amaze us with her strong determination and spirit. We are so very proud of her!
Katie and Vince Tortonesi
Our beautiful little Taylor was born on April 23rd, 2004. Many ultrasounds had prepared us for the fact that she was going to be a small baby, but all other prenatal testing done had come back negative for anything wrong. Delivery was uncomplicated, and out came our little 4 lb 15 oz baby girl. Right away I had the feeling that something was not right. Feeding was poor from the beginning, and it was soon discovered that her soft palate had a cleft. I asked for a genetics consult, but we were assured by doctors that everything was fine.
Over the course of the next several months, feeding and weight gain continued to be poor; severe reflux developed, and we had to start tube feeds. A heart murmur was heard at her two month check-up, which led to a diagnosis of a bicuspid aortic valve. At this point, Taylor was referred for a genetics consult. A routine chromosome analysis was done and was found to be normal. We still had no answers.
Taylor’s tone became more hypotonic as time passed and her developmental delays became more apparent. She also started having myoclonic jerks after she turned a year old, which made us suspicious for seizures, even though an EEG came back normal. It was also discovered that her kidneys were small for her age.
Metabolic testing was done when Taylor was one and half years old and came back showing a carnitine deficiency. After discussion with her local pediatric neurologist, we decided to pursue a muscle biopsy to look for mitochondrial disease. Several months after this was done, the results came back indeed showing a mitochondrial dysfunction – an Electron Transport Chain Complex II and III deficiency.
We finally had an explanation for the low muscle tone, seizures, poor feeding, poor growth, developmental delays, etc. We were finally able to join a local support group – the West Michigan Mito Group - and were able to talk to other parents who knew what we were facing. We finally had resources available to us, and we were also able to start Taylor on treatment, (carnitine and a mitochondrial cocktail containing high doses of B vitamins and CoQ10.)
Shortly before Taylor’s third birthday, we were led to a consult with a pediatric neurologist at the Cleveland Clinic, who specializes in mitochondrial disease. This neurologist explained to us the various ways in which mitochondrial disease can occur, either as a primary disorder or as a secondary disorder. (As a secondary disorder, there is another primary disease that causes it.) He felt that Taylor’s case was a secondary disorder, most likely being caused by a still undiagnosed genetic disorder.
This neurologist ordered a higher resolution chromosome test, known as a chromosome microarray, and we soon had our answer: an unbalanced translocation on chromosomes 4 and 8. Taylor has missing material from the short arm of chromosome 4 (4p-) and extra material of the short arm of chromosome 8 (8p+). The missing material from chromosome 4 gives her the diagnosis of Wolf-Hirschhorn Syndrome (WHS).
After having a consult with the geneticist at the Cleveland Clinic, we learned that there is a gene located on (Taylor’s missing area of) chromosome 4 that is important to mitochondrial function. The gene is known as LETM1. Taylor is the first known case of someone being diagnosed with both Wolf-Hirschhorn Syndrome and mitochondrial disease. However, the geneticist told us that mitochondrial dysfunction is probably something that is prevalent in most cases of WHS, due to the missing LETM1 gene in the syndrome.
Taylor is now five years old, and she loves life. She attends a special ed preschool program at Ken-O-Sha and absolutely loves it. She is mainly non-verbal, but she has recently started to babble a lot more and is always learning new signs. Her favorite verbal words are “mama”, “yeah”, and “uh-oh!” Shortly after her fourth birthday, Taylor started walking independently - something we weren’t sure if she’d ever be able to do. Taylor has overcome so many obstacles in her life thus far and continues to amaze us with her strong determination and spirit. We are so very proud of her!
Katie and Vince Tortonesi
Our Story
The news that our family was due to have a new addition was only that more precious when I found out our second child would be the baby girl I’ve always dreamed of. One boy, one girl, a Dad and a Mom, how much more picture perfect can it get? Our family would be complete upon our little girls arrival. Our doctor called on January 24, 2005 asking for us to come that evening to induce labor for the next day. Since our son was 9lbs 12oz our doctor felt it best not to put me through that again and chose to induce labor the second time around. Our beautiful Payton Grace DeWitt was born January 25, 2005 weighing exactly 2lbs less than her big brother. It was obvious from the moment we saw her she was a Angel sent from God, little did we know how accurate that statement would be later on in life.
When Payton was 3 weeks old she started having seizures. At first the seizures would last 10-20 seconds. As she grew, the seizures did too. They began to last anywhere between 1-4 minutes and would come approximately 2-5 times a day. After 8 months of constant seizures we were sent to U of M to see a pediatric neurologist. She immediately admitted Payton to a 72 hour EEG where we told that Payton had atypical symptoms of a condition called Infantile Spasms. We were given two choices. The first was to wait a while and see if the pattern continues to form more characteristics of Infantile Spasms or we could be proactive and treat the seizures with an extremely harsh steroid treatment called ACTH. We took option # 2 which left us with 10 weeks of administering daily shots of ACTH into Payton’s little thighs. Before this treatment Payton would smile, she rarely cried and overall she was happy, beautiful baby. The steroid treatment turned her into a bloated, unemotional baby. She never cried when we gave her the shots, she didn’t smile and she had loss any kind of gross motor skill she had previously worked so hard to develop. On the upside, the seizures evidentially subsided when she was 11 months old. It took a few weeks of being off the steroid shots, but she finally started to demonstrate some emotions, however she still wasn’t the same. She obsessively sucked on her fingers and eventually her whole hand and continues to do so now even when it’s bleeding and raw. I assumed that once the seizures were under control we could go on living the life we had planned, but low and behold I was wrong. The neurologist at U of M informed us that we now needed to get to the root of the problem. After multiple blood tests Payton was scheduled for a muscle biopsy and a spinal tap by one of U of M’s top pediatric neurosurgeons. Eight weeks came and went and then I received the call at work. The neurologist informed me Payton suffered from Mitochondrial Disease, Complex 1 & 4. Feeling naïve and ignorant I googled this condition and began to feel that life as I knew it was about to change drastically. After allowing the news to digest and informing our family members of the latest findings we were sent to U of M once again to do a question and answer session with our beloved neurologist. The typical questions were addressed; however the typical responses to most of them were “we don’t know.” It was there that we were informed Payton was “special,” beyond what we already thought. Since the disease itself is relatively new and research has been limited due to awareness and lack of funds our questions still go unanswered. We have no idea what lies in the future for us, but are learning that more children are affected by this horrendous disease. Parents are left with no answers and constantly grasping for hope. With Mito affecting the body as a whole it can attack any organ or working system within the body, developmentally or physically. Life expectancy for these children can be very bleak. Since research is slim we are unable to be given any kind of road map that Mito will take on our baby girl. Payton is considered to be severely, multiply impaired. She can't walk, she can't speak, and she can't chew her own food. Every little thing we take for granted is a huge hurdle for Payton to overcome. Instead of dwelling on the negative aspects we work even that much harder to help Payton live her life to the absolute fullest. There is no treatment offered for her beyond an intense dose of vitamins. We try to shield her already damaged immune system from illness and we press on with any education we can offer her. We pray that one day our little girl will walk, say “Dada or Momma,” or just even hold her own bottle. Until then we will continue to pray and tell anyone we can until were blue in the face about Mitochondrial Disease.
Mitochondrial Disease Facts
WHAT ARE MITOCHONDRIA?
Mitochondria are often called the ‘cell’s powerhouse.’ They are specialized compartments within almost every cell. They are responsible for producing 90% of the energy needed by our body to sustain life. Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.
WHAT IS MITOCHONDRIAL DISEASE?
Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.
Imagine a major city with half its power plants shut down. At least, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy-producing facilities shut down. The brain may be impaired, vision may be dim, muscles may twitch or may be too weak to allow your body to walk or write, your heart may be weakened, and you may not be able to eat and digest your food. This is precisely the situation people with mitochondrial disease find themselves.
Mitochondrial disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive. They include: strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, diabetes, blindness and deafness and susceptibility to infections.
WHAT CAUSES MITOCHONDRIAL DISEASE?
For most patients, there is a genetic mutation in either the mitochondrial DNA or the nuclear DNA. The mutation may have been inherited from the mother or from both parents, or it may represent a spontaneous mutation. For most patients with mitochondrial disease, the genetic mutation has not yet been identified.
There are environmental factors, even certain medicines that may interfere with the mitochondria and result in symptoms.
HOW COMMON ARE MITOCHONDRIAL DISEASES?
Every 30 minutes a child is born who will develop a mitochondrial disease by age 10.
At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease.
Mitochondrial disease is a relatively newly diagnosed disease – first recognized in an adult in the 1960s and in the 1980s for pediatric onset cases. It is greatly under diagnosed and the true prevalence is difficult to determine.
Research has consistently shown that mitochondrial dysfunction is at the core of many very common illnesses and chronic conditions of adulthood. These include: Alzheimer’s Dementia, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer and even the aging process itself. Furthermore, autoimmune disease such as multiple sclerosis, lupus and rheumatoid arthritis appear to have a mitochondria basis to illness.
WHY IS RESEARCH SO CRITICAL?
There are no known treatments or cures for mitochondrial disease.
Mitochondria may play a far greater role in human health than scientists and doctors have realized. Any health concern that is an energy problem could be related to the mitochondria.
Further research into the mitochondrion and primary mitochondrial diseases (those due to genetic defect) would benefit millions of people. It would offer hope to the thousands suffering from this debilitating and often fatal disease and provide a broad range of new therapeutic approaches for attempting to treat these other very common and incapacitating illnesses and conditions.
MITOCHONDRIAL DEFECTS ARE A CENTRAL FACTOR IN HUMAN HEALTH AND DISEASE.
Mitochondrial dysfunction is at the core of a surprising range of very common illnesses and conditions, and represents a promising new avenue for their treatment. As the mitochondria are responsible for producing energy, any illness that has an energy problem could be related to the mitochondria. Diseases in which mitochondrial dysfunction have been implicated include:
• Alzheimer’s Dementia, Parkinson’s disease, Huntington disease, Amyotrophic Lateral Sclerosis (ALS), mental retardation, deafness and blindness, diabetes, obesity, cardiovascular disease and stroke. Over 50 million people in the US suffer from these chronic degenerative disorders. While it cannot yet be said that mitochondrial defects cause these problems, it is clear that mitochondria are involved because their function is measurably disturbed.• Even autoimmune diseases such as multiple sclerosis, Sjogrens syndrome, lupus and rheumatoid arthritis appear to have a mitochondrial basis to illness.• Mitochondrial dysfunction has been associated with a wide range of solid tumors, proposed to be central to the aging process, and found to be a common factor in the toxicity of a variety of physical and chemical agents.
SUCCESS TO DATE
The National Institutes of Health (NIH) recently established a cross-cutting research initiative on the mitochondria that cuts across all the NIH institutes (an ROI Project.) In one of his last official actions, former NIH Director Dr. Zerhouni, recently testified before the House Energy & Commerce Committee about the importance of cross-cutting research initiatives as being the key to future advances in science and medicine.
Congress has also expressed its intent to further explore the far-reaching role that mitochondria play in a wide range of diseases. Report language included within the 2008 Labor, HHS Appropriations legislation “…encourages the NIH to intensify its research efforts into primary mitochondrial disease, which is also implicated in numerous other diseases such as Parkinson’s, Alzheimer’s, heart disease, diabetes and cancer. The Committee understands that intensified research into primary mitochondrial disease will help to further understand these other conditions.”
While some steps are being taken, there is a lot more opportunity and promise that could be realized with greater financial resources. Interestingly, research in Europe and Asia is proceeding in a much more intensive manner. Recently for example, China established a mitochondrial university.
HIGHLIGHTS IN RESEARCH
Until recently, the broad range of diseases that may be caused by mitochondrial dysfunction was not well understood or appreciated. A relationship between mitochondrial dysfunction and a wide range of disease states was known to exist, but whether mitochondrial dysfunction was responsible for the particular disease was still in question. This changed with the discovery that mutations of the mitochondrial DNA could cause certain diseases. For the first time, scientists showed that a single nucleotide change in mitochondrial DNA of a mouse led to the development of muscle weakness and progressive heart disease.
Research supporting the link between mitochondrial dysfunction and some of these other common illnesses includes:• Mitochondrial coenzyme Q10 levels are reduced in patients with Parkinson’s disease and mitochondrial function in these patients is impaired.• Results of the first placebo-controlled clinical trial of the compound coenzyme Q10 suggest that it can slow disease progression in patients with early-stage Parkinson’s disease. • These findings are consistent with another recent study involving patients with early onset Huntington’s disease. These patients showed slightly less functional decline in groups receiving coQ10. • Investigators believe coQ10 works by improving the function of the mitochondria.• A drug once approved as an antihistamine in Russia improved thinking processes and the ability to function in Alzheimer’s disease patients. The drug works by stabilizing mitochondria.• Cancers are also associated with defects in the mitochondria. Within the cell, signaling must occur between the mitochondria and the nucleus. When the signaling malfunctions, the defect can cause cancer.• Researchers discovered that mutations in the mitochondrial DNA may play a role in tumor metastasis and suggests a possible new avenue for the development of a treatment to suppress metastasis.• Researchers have found a very consistent decline in mitochondrial function that is found in diabetes and pre-diabetes. • There is increasing interest in the possibility that mitochondrial dysfunction might play an important role in the etiology of autism. A subset of autistic children have already been shown to manifest biochemical alterations that are commonly associated with mitochondrial disorders, and a few have been linked to specific alterations in the mitochondrial genes.
It is clear that research into mitochondrial disease offers hope to the millions who are afflicted with these other common conditions and diseases.
Mitochondria are often called the ‘cell’s powerhouse.’ They are specialized compartments within almost every cell. They are responsible for producing 90% of the energy needed by our body to sustain life. Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.
WHAT IS MITOCHONDRIAL DISEASE?
Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.
Imagine a major city with half its power plants shut down. At least, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy-producing facilities shut down. The brain may be impaired, vision may be dim, muscles may twitch or may be too weak to allow your body to walk or write, your heart may be weakened, and you may not be able to eat and digest your food. This is precisely the situation people with mitochondrial disease find themselves.
Mitochondrial disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive. They include: strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, diabetes, blindness and deafness and susceptibility to infections.
WHAT CAUSES MITOCHONDRIAL DISEASE?
For most patients, there is a genetic mutation in either the mitochondrial DNA or the nuclear DNA. The mutation may have been inherited from the mother or from both parents, or it may represent a spontaneous mutation. For most patients with mitochondrial disease, the genetic mutation has not yet been identified.
There are environmental factors, even certain medicines that may interfere with the mitochondria and result in symptoms.
HOW COMMON ARE MITOCHONDRIAL DISEASES?
Every 30 minutes a child is born who will develop a mitochondrial disease by age 10.
At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease.
Mitochondrial disease is a relatively newly diagnosed disease – first recognized in an adult in the 1960s and in the 1980s for pediatric onset cases. It is greatly under diagnosed and the true prevalence is difficult to determine.
Research has consistently shown that mitochondrial dysfunction is at the core of many very common illnesses and chronic conditions of adulthood. These include: Alzheimer’s Dementia, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer and even the aging process itself. Furthermore, autoimmune disease such as multiple sclerosis, lupus and rheumatoid arthritis appear to have a mitochondria basis to illness.
WHY IS RESEARCH SO CRITICAL?
There are no known treatments or cures for mitochondrial disease.
Mitochondria may play a far greater role in human health than scientists and doctors have realized. Any health concern that is an energy problem could be related to the mitochondria.
Further research into the mitochondrion and primary mitochondrial diseases (those due to genetic defect) would benefit millions of people. It would offer hope to the thousands suffering from this debilitating and often fatal disease and provide a broad range of new therapeutic approaches for attempting to treat these other very common and incapacitating illnesses and conditions.
MITOCHONDRIAL DEFECTS ARE A CENTRAL FACTOR IN HUMAN HEALTH AND DISEASE.
Mitochondrial dysfunction is at the core of a surprising range of very common illnesses and conditions, and represents a promising new avenue for their treatment. As the mitochondria are responsible for producing energy, any illness that has an energy problem could be related to the mitochondria. Diseases in which mitochondrial dysfunction have been implicated include:
• Alzheimer’s Dementia, Parkinson’s disease, Huntington disease, Amyotrophic Lateral Sclerosis (ALS), mental retardation, deafness and blindness, diabetes, obesity, cardiovascular disease and stroke. Over 50 million people in the US suffer from these chronic degenerative disorders. While it cannot yet be said that mitochondrial defects cause these problems, it is clear that mitochondria are involved because their function is measurably disturbed.• Even autoimmune diseases such as multiple sclerosis, Sjogrens syndrome, lupus and rheumatoid arthritis appear to have a mitochondrial basis to illness.• Mitochondrial dysfunction has been associated with a wide range of solid tumors, proposed to be central to the aging process, and found to be a common factor in the toxicity of a variety of physical and chemical agents.
SUCCESS TO DATE
The National Institutes of Health (NIH) recently established a cross-cutting research initiative on the mitochondria that cuts across all the NIH institutes (an ROI Project.) In one of his last official actions, former NIH Director Dr. Zerhouni, recently testified before the House Energy & Commerce Committee about the importance of cross-cutting research initiatives as being the key to future advances in science and medicine.
Congress has also expressed its intent to further explore the far-reaching role that mitochondria play in a wide range of diseases. Report language included within the 2008 Labor, HHS Appropriations legislation “…encourages the NIH to intensify its research efforts into primary mitochondrial disease, which is also implicated in numerous other diseases such as Parkinson’s, Alzheimer’s, heart disease, diabetes and cancer. The Committee understands that intensified research into primary mitochondrial disease will help to further understand these other conditions.”
While some steps are being taken, there is a lot more opportunity and promise that could be realized with greater financial resources. Interestingly, research in Europe and Asia is proceeding in a much more intensive manner. Recently for example, China established a mitochondrial university.
HIGHLIGHTS IN RESEARCH
Until recently, the broad range of diseases that may be caused by mitochondrial dysfunction was not well understood or appreciated. A relationship between mitochondrial dysfunction and a wide range of disease states was known to exist, but whether mitochondrial dysfunction was responsible for the particular disease was still in question. This changed with the discovery that mutations of the mitochondrial DNA could cause certain diseases. For the first time, scientists showed that a single nucleotide change in mitochondrial DNA of a mouse led to the development of muscle weakness and progressive heart disease.
Research supporting the link between mitochondrial dysfunction and some of these other common illnesses includes:• Mitochondrial coenzyme Q10 levels are reduced in patients with Parkinson’s disease and mitochondrial function in these patients is impaired.• Results of the first placebo-controlled clinical trial of the compound coenzyme Q10 suggest that it can slow disease progression in patients with early-stage Parkinson’s disease. • These findings are consistent with another recent study involving patients with early onset Huntington’s disease. These patients showed slightly less functional decline in groups receiving coQ10. • Investigators believe coQ10 works by improving the function of the mitochondria.• A drug once approved as an antihistamine in Russia improved thinking processes and the ability to function in Alzheimer’s disease patients. The drug works by stabilizing mitochondria.• Cancers are also associated with defects in the mitochondria. Within the cell, signaling must occur between the mitochondria and the nucleus. When the signaling malfunctions, the defect can cause cancer.• Researchers discovered that mutations in the mitochondrial DNA may play a role in tumor metastasis and suggests a possible new avenue for the development of a treatment to suppress metastasis.• Researchers have found a very consistent decline in mitochondrial function that is found in diabetes and pre-diabetes. • There is increasing interest in the possibility that mitochondrial dysfunction might play an important role in the etiology of autism. A subset of autistic children have already been shown to manifest biochemical alterations that are commonly associated with mitochondrial disorders, and a few have been linked to specific alterations in the mitochondrial genes.
It is clear that research into mitochondrial disease offers hope to the millions who are afflicted with these other common conditions and diseases.
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