Kearns Sayer, Leigh's Disease, LHON, Melas, Mitochondrial Depletion Syndrome, Mitochondrial Disease, Mitochondrial Disorders, MNGIE, NARP
Conditions
Keywords
mitochondrial disorder, mitochondria, oxidative phosphorylation, oxidative phosphorylation disorders, respiratory chain disorders, mitochondrial disease, melas, kearns sayer, NARP, MNGIE, LHON, Mitochondrial depletion syndrome, Leigh's disease
Brief summary
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 dysfunction.
Detailed description
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 made. 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.
Interventions
None listed
Sponsors
National Institutes of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Columbia University
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of patients with reduced respiratory chain enzyme levels | Up to 2 years | Biochemical studies involving mitochondrial function. The levels will be compared to normal levels. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of new genetic mutations | Up to 2 years | Evaluation of potential genetic interaction in clinical signs and symptoms. |
Countries
United States
Outcome results
None listed