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Mitochondrial Medicine

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If you have found our website, you or someone you know may have a mitochondrial disease. We recognize that making a diagnosis of a mitochondrial disorder is not always easy or straightforward. Mitochondria provide the energy for cells and when there is a disorder the symptoms can be very different depending on which cells or tissues are involved. Often a person can have many symptoms that may or may not be related and it is difficult to determine the underlying cause of the problems. We hope that the information in this website and the care provided in our clinic will be helpful to you and your family.

Mitochondrial Medicine

The 20th century bore witness to a massive expansion of our knowledge of both mitochondrial function and its associated diseases. Much of what we know about diseases related to mitochondrial malfunction has been recently discovered. In 1962, the first reported case of a patient with mitochondrial disorder was published.  Clinical features of rare mitochondrial conditions such as MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes), Kearns-Sayre syndrome, and Leigh’s syndrome were described. In 1981, the mitochondrion genome was published and in the late 1980s, the first cases of mitochondrial diseases due to genetic mutations were published. More recently, it appears that mitochondrial malfunction and resulting abnormal energy production may play a role in many common conditions such as multiple sclerosis, diabetes, stroke, and even general aging.

Mitochondrial medicine is a new and rapidly developing medical subspecialty concerned with the diagnosis and treatment of patients with abnormal cellular energy production. A variety of specialists are involved in the treatment of mitochondrial diseases including neurologists, geneticists, ophthalmologists, cardiologists, and many others. By working together as a healthcare team, these specialists hope to learn much more regarding the mitochondria’s role in energy production and how malfunctioning mitochondria can lead to both rare and common diseases.

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