FAQs
What is mitochondrial disease?
Mitochondria are the parts of your cells that create about 90% of the energy your body needs to function. Mitochondrial disease occurs when mitochondria fail to produce enough energy, causing cell injury or cell death. Because the organs that need the most energy — the brain, heart, and muscles — are affected first, mitochondrial disease can impact multiple body systems at once, and its severity varies widely from person to person.
What causes mitochondrial disease?
Most mitochondrial disease is inherited, caused by mutations in either mitochondrial DNA or nuclear DNA that affect how mitochondria function. Mitochondria can also be affected by other genetic disorders and by environmental factors. Because inheritance patterns can be complex, genetic counseling is often recommended for affected families.
How common is mitochondrial disease?
Mitochondrial disease is more common than many people realize. About 1 in 5,000 people has a genetic mitochondrial disease, and an estimated 1,000 to 4,000 children are born with a mitochondrial disease in the U.S. each year — roughly one child every 30 minutes who will develop the disease by age 10.
What are the symptoms of mitochondrial disease?
Symptoms depend on which organs and cells are affected, but commonly involve the brain, heart, muscles, and other high-energy-demand organs. Because symptoms overlap with many other conditions, mitochondrial disease can be difficult to recognize without specialized testing. People with mitochondrial disease are also at higher risk of neurological and organ complications during periods of physical stress, such as illness, surgery, anesthesia, or dehydration.
How is mitochondrial disease diagnosed?
Diagnosis typically involves a combination of blood and urine tests (checking amino acid and lactate levels), genetic/DNA testing, and sometimes a muscle biopsy. Diagnosis can be challenging because many common conditions have been linked to mitochondrial dysfunction, which is why UMDF connects families with specialized clinicians and offers a no-cost genetic testing program to help streamline the process.
Is there a cure for mitochondrial disease?
There is currently no universal cure for mitochondrial disease, and outcomes vary widely — some people live relatively normal lives while others face serious, life-limiting complications. Treatment focuses on managing symptoms and supporting organ function. UMDF funds research aimed at improving diagnosis, developing new therapies, and ultimately finding cures through its Roadmap to a Cure initiative.
What is the United Mitochondrial Disease Foundation (UMDF)?
UMDF is a nonprofit organization founded to support and empower mitochondrial disease patients and families, drive awareness, mobilize advocacy, improve access to diagnosis and quality care, and accelerate breakthroughs in treatments and cures. Founded nearly 30 years ago and based in Pittsburgh, Pennsylvania, UMDF is guided by a Board of Trustees and a Scientific & Medical Advisory Board of researchers and clinicians.
How does UMDF support patients and families?
UMDF offers a range of free support services, including a patient concierge support line, educational resources through Mito University, a directory to help find specialized doctors, peer support through UMDF Connect, insurance assistance for mitochondrial disease medications, and an annual Mitochondrial Medicine Conference that brings together patient families, clinicians, and researchers.
How does UMDF fund research?
UMDF is the largest non-governmental funder of basic and translational mitochondrial disease research. It awards peer-reviewed grants in three categories — Principal Investigator Grants, Postdoctoral Fellow Grants, and Graduate Student Grants — and its funding often stimulates additional government follow-on research dollars. Grant recipients are selected through rigorous review by leading scientific and medical experts in the field.
What is Mito University?
Mito University is UMDF’s free educational platform for patients, families, caregivers, and medical professionals. It offers video libraries covering the basics of mitochondrial disease, caregiving strategies, clinical trial information, and specific conditions, along with brochures, fact sheets, and a clinician portal offering continuing medical education (CME) credit.
What is the mitoSHARE Patient Registry, and should I join?
mitoSHARE is a free, worldwide patient registry where individuals with — or being evaluated for — mitochondrial disease can securely share health information to advance research. Joining takes less than 10 minutes, participants retain full control over their data, and it’s open to anyone worldwide regardless of confirmed diagnosis. Registry data helps researchers and clinicians improve diagnosis and care standards.
Does UMDF offer free genetic testing?
Yes. UMDF’s no-cost genetic testing program, run in partnership with Probably Genetic and the Broad Institute, offers whole genome sequencing — including full mitochondrial DNA sequencing — to eligible U.S. residents who have never had this testing and lack insurance coverage for it. The process starts with an online symptom assessment, followed by an at-home saliva sample kit, with results and free genetic counseling typically available within 6-8 weeks.
How can I find a doctor who treats mitochondrial disease?
UMDF maintains a Find a Doctor directory listing more than 200 clinicians and researchers who treat and study mitochondrial disease. Families can also call UMDF’s support line at (888) 900-6486 for help identifying specialists near them.
How can I get support or ask a question?
UMDF’s Get Support page connects patients and families with educational resources, a patient concierge, and community programs. You can reach UMDF’s support line at (888) 900-6486 for personalized help finding resources, doctors, or answers about mitochondrial disease.
How can I donate or get involved with UMDF?
You can donate directly online, participate in the Energy for Life Walk, create a family tribute page, or ask your employer about matching gift programs. Donations fund UMDF’s research grants, patient support services, genetic testing program, and educational programming for the mitochondrial disease community.