Biomarkers of mitochondrial disorders

Shayota, Brian J.

doi:10.1016/j.neurot.2024.e00325

Neurotherapeutics

2024

DOI: 10.1016/j.neurot.2024.e00325

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Biomarkers of mitochondrial disorders

Brian J. Shayota

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2024

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Cited by 5 publications

(1 citation statement)

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“…In the article “ Biomarkers of Mitochondrial Disorders” [ 3 ] of this issue, Shayota explores the latest landscape of mitochondrial biomarkers found in commonly accessible bodily fluids, including blood or plasma, urine, and cerebrospinal fluid. The author conducted an analysis of PubMed searches for relevant articles using the search terms “mitochondrial disease” or “mitochondrial disorder” in conjunction with the terms “biomarker” or “diagnostic test” and identified 13 unique biochemical biomarker tests for mitochondrial disease from 55 original publications.…”

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confidence: 99%

Mitochondrial disorders: Emerging paradigms and the road ahead to personalized medicine

Gropman,

Chandra

2024

Neurotherapeutics

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mentioning

confidence: 99%

Mitochondrial disorders: Emerging paradigms and the road ahead to personalized medicine

Gropman,

Chandra

2024

Neurotherapeutics

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The establishment of a molecular diagnostic platform for mitochondrial diseases: from conventional to next-generation sequencing

Tsai,

Liou,

Cheng

et al. 2024

Biomedical Journal

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Emerging Multi-omic Approaches to the Molecular Diagnosis of Mitochondrial Disease and Available Strategies for Treatment and Prevention

Khaghani,

Hemmati,

Ebrahimi

et al. 2024

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Mitochondria are semi-autonomous organelles present in several copies within most cells in the human body that are controlled by the precise collaboration of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) encoding mitochondrial proteins. They play important roles in numerous metabolic pathways, such as the synthesis of adenosine triphosphate (ATP), the predominant energy substrate of the cell generated through oxidative phosphorylation (OXPHOS), intracellular calcium homeostasis, metabolite biosynthesis, aging, cell cycles, and so forth. Previous studies revealed that dysfunction of these multi-functional organelles, which may arise due to mutations in either the nuclear or mitochondrial genome, leads to a diverse group of clinically and genetically heterogeneous disorders. These diseases include neurodegenerative and metabolic disorders as well as cardiac and skeletal myopathies in both adults and newborns. The plethora of phenotypes and defects displayed leads to challenges in the diagnosis and treatment of mitochondrial diseases. In this regard, the related literature proposed several diagnostic options, such as high throughput mitochondrial genomics and omics technologies, as well as numerous therapeutic options, such as pharmacological approaches, manipulating the mitochondrial genome, increasing the mitochondria content of the affected cells, and recently mitochondrial diseases transmission prevention. Therefore, the present article attempted to review the latest advances and challenges in diagnostic and therapeutic options for mitochondrial diseases.

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Biomarkers of mitochondrial disorders

Cited by 5 publications

References 82 publications

Mitochondrial disorders: Emerging paradigms and the road ahead to personalized medicine

Mitochondrial disorders: Emerging paradigms and the road ahead to personalized medicine

The establishment of a molecular diagnostic platform for mitochondrial diseases: from conventional to next-generation sequencing

Emerging Multi-omic Approaches to the Molecular Diagnosis of Mitochondrial Disease and Available Strategies for Treatment and Prevention

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