Computational and Experimental Approaches For Evaluating the Genetic Basis of Mitochondrial Disorders
Year: 2013
Type: dissertation
Abstract: Mitochondria are responsible for many fundamental biological pathways and metabolic processes, including aerobic ATP production by the mitochondrial respiratory chain. In humans, mitochondrial dysfunction can lead to severe disorders of energy metabolism, which are collectively referred to as mitochondrial disorders and affect approximately 1:5,000 individuals. These disorders are clinically heterogeneous and can affect multiple organ systems, often within a single individual. Symptoms can include myopathy, exercise intolerance, hearing loss, blindness, stroke, seizures, diabetes, and GI dysmotility. Mutations in over 150 genes in the mitochondrial DNA (mtDNA) and nuclear genome are known to cause mitochondrial diseases and an additional ~1,000 nuclear-encoded mitochondrial proteins have the potential to underlie mitochondrial disorders but have not yet been linked to human disease. As a result, determining a molecular diagnosis for patients with suspected mitochondrial disorders remains a challenge.
Author: Daniel S. Lieber
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
Funders: National Science Foundation, U.S. Department of Defense, Harvard University, National Institutes of Health, National Defense Science and Engineering Graduate, National Institute of Mental Health, National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases
OpenAlex ID: W2112548453