Mitochondrial Disease Biobank Introduction

The Mitochondrial Disease Biobank was established at Mayo Clinic in 2009. Our mission is to collect blood and tissue samples from patients with known or suspected mitochondrial diseases and their family members to aid the advancement of mitochondrial medical research and medicine.

Mitochondrial diseases occur when structures within a cell (organelles) that produce energy for that cell malfunction. Approximately 1000 children per year in the U.S. are born with some form of mitochondrial disease. Most often, mitochondrial disorders are inherited. However, an uncertain percentage of patients acquire symptoms due to other factors, including exposure to mitochondrial toxins and aging.

Mitochondrial medicine is a new and rapidly developing medical subspecialty. Even though conditions with an underlying mitochondrial cause were noted as far back as the late 1800's, it was only in 1959 that the first patient was diagnosed with a mitochondrial disorder. In 1963, researchers discovered that mitochrondria have their own DNA or “blueprint” (mtDNA), which is different than the nuclear DNA (nDNA) found in a cell’s nucleus. This discovery has aided the expansion of mitochondrial genetics and medicine.

Today, researchers have identified over 40 different mitochondrial disorders with unique genetic features. The common factor among these diseases is that the mitochrondria are unable to completely burn food and oxygen in order to generate energy, which is essential for normal cell function.

Using samples collected by the Mitochondrial Biobank, researchers will learn more about a group of diseases collectively known as mitochrondrial disorders, which include:

• Alpers’ progressive sclerosing poliodystrophy
• Leber hereditary optic neuroretinopathy
• Barth syndrome
• Leigh and Leigh-like Syndrome
• Chronic progressive external ophthalmoplegia
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Dominant optic atrophy
• Myoclonic epilepsy associated with ragged-red fibers (MERRF)
• Friedreich’s Ataxia
• Neuropathy, ataxia, and retinitis pigmentosa (NARP)
• Hereditary paragangliom
• Pearson syndrome
• Hereditary spastic paraplegia
• Wolfram syndrome
• Kearns-Sayre syndrome

Our common goal is to advance the understanding of mitochondrial disease and rapidly translate our discoveries into better patient care.