Q&A

Autism Trial Questions and Answers >Click to read

Q.    What are Mitochondria?
A.     Mitochondria are found in nearly every cell in our body. They use the food we eat and the air we breathe to produce the energy our cells need to function. Without mitochondria, for example, muscles could not contract and neurons could not fire. Mitochondria literally make it possible for us to move and think.

        In addition to being the power source of cells, mitochondria perform specialized functions in different tissues. For example, liver mitochondria contain enzymes that allow them to detoxify ammonia, a waste product of protein metabolism.  Mitochondria are also needed to make hemoglobin in red blood cells, cholesterol, and sex hormones.  They are even involved in determining which cells live and which cells die throughout life.  Groundbreaking discoveries have revealed that mitochondria play key roles in diseases that range from cancer and diabetes, autism and autoimmunity, to stem cells and problems with healing, to the aging process itself.

Q.    What is Mitochondrial Disease?
A.     When mitochondria fail to generate sufficient energy, or do not perform their specialized tasks in different tissues, a person may experience isolated symptoms that include unexplained seizures, sudden infant death syndrome (SIDS), low blood counts, blindness, deafness, dementia, ataxia (stumbling or tremors), cerebral palsy, heart failure, stroke, or progressive muscle weakness.

        More often, however, several organ systems are affected in sequence, one faltering or failing after another. If a person is stricken with a catastrophic disease affecting three or more organ systems, he or she may have a mitochondrial disease.

Q.    What causes mitochondrial failure?
A.     Any mutation in DNA that prevents mitochondria from making energy, or performing their other functions can lead to mitochondrial failure. These mutations may be inherited or may occur spontaneously at any age, and therefore can cause disease at any age.  There are about 1,500 genes that are needed to make a mitochondrion. About 90% of childhood mitochondrial diseases are inherited, and 10% appears to be spontaneous, i.e., new mutations that neither mother nor father carried. There are also many different chemicals and drugs that can cause mitochondrial failure in some patients.  Some of these are common agents used in cancer chemotherapy and in the treatment of AIDS.

Q.    What is Leigh Syndrome?
A.    Leigh Syndrome is one of the most lethal forms of mitochondrial diseases. It affects children between the ages of 3 months and 3 years.  Death usually occurs within a few years  of diagnosis.   It causes damage to critical areas of the brain that control breathing, blood pressure, appetite, and coordination.  While all mitochondrial diseases cause setbacks with relatively mild infections, the brain lesions in Leigh Syndrome may expand rapidly during infection.  This may lead rapidly to breathing difficulties, coma, or death.

Q.     What symptoms do people with Mitochondrial Disease exhibit?
A.     Because any combination of tissues can be affected by mitochondrial failure, symptoms exhibited by people with mitochondrial disease vary greatly.

        In the case of Christine Shimizu, her weight gain and motor skills had leveled off at seven months of age and her physical energy had decreased. In addition, she had very little appetite and her eyes drooped when she tried to eat. Her weakness was the result of malfunctioning mitochondria in her muscles.  The problems with appetite, energy, and development were the result of malfunctioning mitochondria in critical areas of the brain affected by Leigh Syndrome.

Q.    How common is childhood Mitochondrial Disease?
A.     One in 4,000 children born in the United States each year will develop a mitochondrial
disease by 10 years of age. Because mitochondrial diseases are under-recognized, this figure may be an underestimation of as much as four fold.  It is nearly as common as childhood cancer.  Adult forms of mitochondrial disease also affect about 1 in 4000 and can occur at any age, from the teenage years until the 80s.

Q.    Is autism a mitochondrial disease?
A.  Very recent research has found that some kinds of mitochondrial dysfunction can lead to autism. This is groundbreaking work.  Until now, there seemed to be no common link to explain all the different kinds of autism. Autism affects about 1 in 150 children in the US. 

Q.    Why do physicians have difficulty identifying mitochondrial disease?
A.     At present, the diagnosis of mitochondrial disease is often missed because scientists do not fully understand the normal function of mitochondria in specialized cells, and because sensitive tests for accurate diagnosis of all the possible defects have not yet been developed.  No single test can detect all mitochondrial disease, because no single symptom is common to all mitochondrial disease.  Since any organ system may be affected, doctors must think about the possibility of mitochondrial disease when a "common" disease has unusual features, or affects 3 or more organ systems.

Q.     Is there a cure?
A.     There is no known cure at this time.

Q.    What treatments are currently available?
A.    The only treatment available to Christine Shimizu was an investigational drug given at the Mitochondrial and Metabolic Disease Center (MMDC) at UCSD Medical Center. Christine qualified for the drug only after a series of extensive tests done within a 5-day period.

        Because Christine had a form of Leigh Syndrome that produced abnormally high levels of lactic acid in her brain and blood, the experimental drug DCA was used to lower the lactic acid.  New drugs are being investigated every year. 

Q.    What is the UCSD Foundation Christini Fund?
A.     This fund is named after Christine Shimizu, 2-year old little girl who lost her precious life to Leigh Syndrome just weeks after her 2nd birthday. It was established for the purpose of supporting research at the Mitochondrial and Metabolic Disease Center at UCSD.

Q.    What is the UCSD Foundation?
A.    The UCSD Foundation is a not-for-profit organization that accepts and distributes charitable donations to scientists and faculty at the University of California, San Diego. It is organized into a number of different Funds, like the Christini Fund, to help support specific areas of research and other activities at the university.

Q.    What is the Mitochondrial and Metabolic Disease Center (MMDC)?
A.    It is an international referral center that provides diagnosis and life-long treatment for patients with mitochondrial disease. It is located at UCSD Medical Center and holds weekly clinics at San Diego Rady Childrens Hospital.

Q    What are the goals of the MMDC?
A.   Patient care is at the heart. All physicians and scientists work for a common goal -- to understand and develop more effective treatments for mitochondrial and metabolic disease through a unified program of excellence in clinical care, clinical research, laboratory diagnosis, and basic research.

Q.  From what source does the MMDC receive funding?
A.   Private donations and grants.

Q.     In what area does the MMDC most urgently need funding?
A .    It needs funding for research into understanding the mechanisms underlying mitochondrial disease.

Q.    How are monies donated to the MMDC currently being used?
A.    All money donated for research at the MMDC goes directly into the laboratory where basic questions about mitochondrial and metabolic disease are being studied at the molecular level. It is used to purchase necessary equipment and supplies for studying the basic principles common to all mitochondrial disease.  

Q.    How will money raised from the UCSD Foundation Christini Fund be used?
A.   This money will go directly to research.   It will help support the laboratory personnel needed to do this state-of-the-art work in mitochondrial and metabolic disease research.  The discoveries made in the laboratory will lead to new methods of treatment and early diagnosis of children afflicted with these dreadful disorders, but also leads to fresh clues about common adult diseases that have mitochondrial defects, like diabetes, heart disease, strokes, Autism, Lupus, Multiple Sclerosis, Parkinson, and Alzheimer disease.

Q. Are corporate sponsorships and individual entry fees for the golf tournament tax deductible?
A.   Yes. The UC San Diego Foundation Christini Fund is a tax-exempt charity (#95- 2872494). Portions of corporate sponsors and individual entry fees are tax deductible.

In Loving Memory of Christine Shimizu