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• W4387172004 abstract "Mitochondria are dynamic cellular organelles playing many biological roles that are fundamentally required for cellular functions. The primary role of mitochondria is ATP production through oxidative phosphorylation (OXPHOS). Mitochondria are found in nearly all cell types, and their number within cells varies in a tissue−/organ-dependent manner. Tissues/organs characterized by high-energy demands contain abundant mitochondria, and these tissues/organs are most frequently affected when their mitochondria are dysfunctional. The resulting pathologies can be generally referred to as mitochondrial diseases (MDs). MDs can be caused by nuclear or mitochondrial DNA mutations in genes encoding mitochondrial proteins, including OXPHOS proteins. Also, MDs can be developed through nongenetic mechanisms such as those involving environmental factors, mitotoxicity drugs, oxidative stress, and aging. MDs can appear over the entire life span. Patients with particular MDs present a wide range of heterogeneous phenotypes with different levels of disease severity. The wide variety of leading causes and heterogenous phenotypes of MDs make diagnosing MDs notoriously challenging. Despite these challenges, multiple diagnostic examinations and tools, including family history, phenotypic examinations, neurological imaging, biochemical tests, and genetic analyses, have collectively enhanced the diagnosis of MDs. As a result of the diagnostic limitations and drawbacks, there have been demands for developing new diagnostic approaches capable of detecting metabolic perturbations of MDs used as metabolic biosignatures. For that reason, the metabolomic approach, the study of small metabolites ≤1500 daltons, has recently garnered attention. While metabolomics offers significant advances, it is recommended that data sets be integrated with other diagnostic approaches. This chapter reviews the application of metabolomic analyses in studying human MDs." @default.
• W4387172004 created "2023-09-30" @default.
• W4387172004 creator A5026827395 @default.
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• W4387172004 date "2023-01-01" @default.
• W4387172004 modified "2023-10-17" @default.
• W4387172004 title "Metabolomics in the Study of Human Mitochondrial Diseases" @default.
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