Tissue Sample Study for Mitochondrial Disorders

Conditions:Other Indications, Gastrointestinal
Therapuetic Areas:Gastroenterology, Other
Age Range:Any
Start Date:February 2012
End Date:January 2020
Contact:Kris Engelstad, MS CGC

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Tissue Study for Mitochondrial Disorders

The investigators are studying patients with undefined mitochondrial diseases to identify
genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA). Most patients
with suspected or known mitochondrial diseases have no genetic confirmation. The
investigators expect that evaluating tissue samples from patients with mitochondrial
disorders will lead us to discover mutations in new or known genes causing mitochondrial

Presently, the investigators know of about 200 mitochondrial disorders. The investigators
know that there are about 1,300 genes responsible for mitochondrial function. Thus, there
are a lot of mutated genes to be discovered out there. Currently, most patients with
suspected or known mitochondrial disorders do not have genetic confirmation of the disease.

The goal of this project is to perform biochemical and DNA analysis on tissue samples of
patients with mitochondrial disorders to find new genes that might be involved in
mitochondrial dysfunction.

Leftover patient tissue samples will be obtained for analysis from within the Columbia
Presbyterian Medical Center. Left over patient samples may also be sent from outside the
institution. This is not a "first-step" in the diagnostic process, but rather an option for
evaluation in patient samples for which no known diagnosis or genetic confirmation has been

The research laboratory does not guarantee that a sample will be analyzed. Sample analysis
is performed according to research interest. If they choose, patients can be contacted
should laboratory findings provide insight into their disease.

Inclusion Criteria:

- Patients suspected of having a mitochondrial disorder

- Patients who may carry a genetic mutation or be related to someone with a genetic
mutation which may cause a mitochondrial disorder

Exclusion Criteria:

- Patients who are not suspected of having a mitochondrial disorder
We found this trial at
New York City, New York 10032
New York City, NY
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