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July 15th, 2015

Repairing Mitochondrial Disease

By Center for Regenerative Medicine

A multidisciplinary team  has successfully  eliminated fatal mitochondrial DNA mutations in stem cells from patients with mitochondrial diseases. The study is published in the current issue of Nature as a collaboration between some of the top research institutions and Mayo Clinic's Center for Regenerative Medicine.

Mitochondrial diseases are a particular struggle for patients and their families as treatment options are limited, something made even more dire as many of those affected are children. Andre Terzic, M.D., Ph.D., Director of Mayo Clinic's Center for Regenerative Medicine, explains: "these are life threatening conditions where standard care is limited to alleviating  symptoms of disease. Our proof-of-concept study shows that functionally corrected stem cells can be generated from these patients, providing initial steps towards regenerative therapy for mitochondrial disease.”

Mitochondrial DNA defects impair the ability of patient's mitochondria, the body's cellular metabolic engine, to generate energy . Once the mitochondria begin to malfunction, energy production becomes insufficient to support normal functions, and the patient experiences a variety of debilitating symptoms particularly in tissues with high energy requirements.

Now, researchers at Oregon Health & Science University in collaboration with Salk Institute, Sanford Consortium for Regenerative Medicine, University of Oxford, Cincinnati Children’s Hospital Medical Center, and Mayo Clinic's Center for Regenerative Medicine have applied  methods to restore healthy mitochondria in cells derived from patients with mitochondrial disease. Through generation of pluripotent stem cells they were able to either select stem cells containing healthy mitochondria or to replace the dysfunctional mitochondria with healthy counterparts from a donor cell. “Restoration of mitochondrial function in stem cells from patients with mitochondrial disease is thus achievable” explains co-author Clifford Folmes, Ph.D.

This technique  restored  mitochondrial function in different forms of mitochondrial disease, including Leigh Syndrome and Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Dr. Terzic concludes: "This is a transformative moment where deadly diseases are targeted and potential solutions are offered."

 

Tags: Andre Terzic, Clifford Folmes, Mayo Clinic, Mitochondrial Disease, Oregon Health and Science University, regenerative medicine, Uncategorized

Comment


Amy Macris
@lifeonerth

Posts: 1
Joined: Sep 14, 2015
Posted by @lifeonerth, Sep 14, 2015

Oh thank God, this is brilliant! I was diagnosed with mitochondrial disease; I am now 39 and almost totally bedridden. I used to be an athlete. Every system in my body seems to be breaking down. I went to a mitochondrial geneticist at Duke and asked him my prognosis and he just stared at me and said nothing!! This is a very scary disease to say the least, and having no treatment and no hope is the worst part. Thank you Mayo and Associates for giving us some hope! Where do I sign up? Is this at the clinical stages yet?


vivkane101
@vivkane101

Posts: 1
Joined: Jul 14, 2017
Posted by @vivkane101, Thu, Jul 13 8:30pm

What is known about adult onset mitochondrial disease? Is there a correlation with other auto immune diseases such as restless leg syndrome, exczema and allergies?

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