NIH R01 · 2024
Metabolic remodeling of skeletal muscle in mitochondrial myopathies
Project Summary Mitochondrial diseases are heterogeneous genetic disorders caused by the impairment of the oxidative phosphorylation (OXPHOS) system, affecting tissues that are heavily energy dependent, and often manifesting with neuromuscular symptoms accompanied by a variety of additional clinical features. Although the energetic defects arising from genetic errors in mitochondrial and nuclear DNA are often known, many aspects of mitochondrial disease pathogenesis are yet to be elucidated. As a consequence, because of the lack of defined metabolic targets, no proven effective treatments or cures are available. Our recently published studies indicate that a dramatic metabolic remodeling…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.