Video Lecture ARCHIVED: NOT AVAILABLE FOR CREDIT

Molecular Diagnosis of Mitochondrial Disorders

Mitochondrial diseases are a group of heterogeneous disorders affecting organ systems that have high energy requirements and are dependent on aerobic metabolism. The disease can be caused by Mitochondrial DNA (mtDNA) mutations and may cause mitochondrial respiratory chain dysfunction resulting in various pathological conditions (20% of the patients) and nuclear gene mutation (80%). To date, it is predicted in more than 1000 genes which could trigger mitochondrial metabolism, mitochondrial biogenesis, mitochondrial integrity and apoptosis. Mitochondrial diseases often affect multiple organs and manifest with prominent neurologic and myopathic features; however, the clinical phenotype is very variable. Mitochondrial mutation in somatic tissues have been studied and found associated with tumorgenesis in lung cancer and hematologic malignancy. With large scale genome-wide sequencing technology available (next generation sequencing), we have developed a comprehensive test for the mutations in the mitochondrial genome and 128 nuclear genes, and can provide personalized diagnosis and management of the disease.

Originally presented October 21, 2011 in Salt Lake City, Utah.

Lecture Presenter

Rong Mao, MD Rong Mao, MD
Medical Director, Molecular Genetics, ARUP Laboratories
Associate Professor (Clinical), Department of Pathology, University of Utah School of Medicine

Dr. Mao is the medical director of Molecular Genetics at ARUP, and an associate professor of pathology and co-director of the Clinical Medical Genetics Fellowship Program at the University of Utah School of Medicine. Dr. Mao received her MD from Capital University of Medicine in Beijing, China and her MS in molecular pathology from Beijing Union Medical College. She is certified by the American Board of Medical Genetics, with a subspecialty in clinical molecular genetics, and by the New York State Department of Health, with a subspecialty in genetic testing.

Objectives

After this presentation, participants will be able to:

  • Describe the complicacy of mitochondrial diseases and clinical diagnostic challenges
  • Introduce the clinical application of next generation sequencing for mitochondrial genome and 100 nuclear genes panel
  • Discuss the comprehensive approach to maximum the sensitivity of molecular diagnosis in mitochondrial disorders

Sponsored by:

University of Utah School of Medicine and ARUP Laboratories