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Overview of Mitochondrial Diseases in the Undiagnosed Disease Program

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Mitochondrial diseases result from disruptions in oxidative phosphorylation caused by genetic variants in mitochondrial DNA (mtDNA), nuclear DNA (nDNA), or rare sporadic cases. These disorders impair mitochondrial function leading to a diverse array of multisystemic symptoms that vary in clinical severity. The heterogeneity in symptomatology and a complex genetic testing process poses challenges to timely diagnoses. In the Undiagnosed Disease Program (UDP), a growing portion of our patients are diagnosed with a wide variety of mitochondrial diseases, many in adulthood due to unusual phenotypic presentation. Timely diagnoses of mitochondrial diseases are vital to improving the patient outcomes.

 

Methods:
Patients accepted into the UDP undergo extensive genetic and multidisciplinary testing, including but not limited to, clinical examinations, exome or genome sequencing, biochemical testing, and/or muscle biopsies to arrive at a diagnosis. The UDP patients with confirmed mitochondrial disorders range in age from 6 to 70 years.

 

Results:
Using deep phenotyping, standardized biochemical screening, genomic strategies, and multiple tissue biopsies for mitochondrial enzymology, blue native gel assays to assess super complex assembly, qPCR for mitochondrial DNA copy number, light & electron microscopy, and immunohistochemical staining, the UDP has identified mitochondrial diagnosis in some patients with unusual presentations that have been undiagnosed despite previous evalautions.

 

Conclusion:
Patients diagnosed with mitochondrial diseases in the UDP can provide vital insights into unique presentations that should prompt a targeted mitochondrial evaluation.  Early diagnosis is essential in optimize symptom management and/or assist patients in seeking treatment or participating in research. Specific diagnostic strategies are necessary to identify more patients with mitochondrial disease.

 

Agenda

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