The Mitochondrial Medicine Society

Advancing education, research, and global collaboration in clinical mitochondrial medicine

On Muscle biopsies

When muscle is collected for mitochondrial testing, the muscle can be frozen and shipped to a lab that can perform mitochondrial electron-transport-chain enzyme analysis and other mitochondrial testing OR obtained in a center that is able to isolate the mitochondria and perform testing while they are still ‘fresh.’  ‘Fresh’ tissue allows the amount of mitochondrial ATP generation to be quantified.

In fresh or frozen muscle, tests such as Southern blots, Western blots, and blue native gel electrophoresis provide added information on mitochondrial health. Electron microscopy helps determine the ultra-structural appearance of the mitochondria. Muscle tissue is a source for mitochondrial DNA testing as well.

These tests are separate from the routine studies done when a patient receives a muscle biopsy and must be planned/requested in advance. Routine testing in muscle only includes staining muscle tissue with various histologic stains. In most patients, this type of testing, by itself, does not provide enough information to identify mitochondrial dysfunction.

The UCSD Muscle Biopsy Protocol is provided for reference only at this link

The Cleveland Clinic protocol involves sending all biopsies for histology, electron microscopy, enzyme analysis via spectrophotometry (“ETC enzyme analysis”), oxidative phosphorylation via oxygen electrode polarography, Blue Native Page Super-complex analysis, Western blot subunit analysis, mtDNA depletion analysis, mtDNA deletion analysis and glycolytic studies.

Centers Providing Evaluation in Freshly Isolated Mitochondria listed alphabetically

  1. Center for Human Genetics & Center for Inherited Diseases in Metabolism, University Hospitals, Case Medical Center, Cleveland, OH. Click here.
  2. Cleveland Clinic Neurometabolism & Neurogenetics & Center for Inherited Diseases in Metabolism, Cleveland, OH. Click here.
  3. Medical Neurogenetics, Atlanta,GA. Click here.
  4. Mitochondrial & Metabolic Disease Center, University of California, San Diego, CA. Click here.

“Frozen” Tissue Testing listed alphabetically

  1. Athena Diagnostics. Click here.
  2. Baylor College of Medicine Mitochondrial Laboratory, Baylor, TX. Click here.
  3. Center for Inherited Diseases in Metabolism, Cleveland, OH. Click here.
  4. Center for the Study of Mitochondrial Disease, Hospital for Sick Children, Toronto, ON. Click here.
  5. Columbia Merritt Center Laboratory for Medical Neurogenetics, Columbia NY. Click here.
  6. Denver Biochemical Genetics Laboratory, Denver, CO. Click here.
  7. Mayo Medical Laboratories, Rochester, MN. Click here.
  8. Medical Neurogenetics, Atlanta, GA. Click here.
  9. Mitochondrial & Metabolic Disease Center, University of California, San Diego, CA. Click here.
  10. Neurometabolic Clinic, McMaster University Medical Center, Hamilton, ON. Click here.
  11. Robert Guthrie Biochemical Genetics Labarotory, Buffalo Children’s Hospital, Buffalo, NY. Click here.

If you feel that there is a laboratory or clinic that belongs on this list, please notify us