Accuracy of FGF‐21 and GDF‐15 for the diagnosis of mitochondrial disorders: A meta‐analysis

Lin, Yan; Ji, Kunqian; Ma, Xinyan; Liu, Shuangwu; Li, Wei; Zhao, Yuying; Yan, Chuanzhu

doi:10.1002/acn3.51104

Cited by 17 publications

(10 citation statements)

References 41 publications

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“…Based on current results, these two factors may play critical roles at the early stages of disease in inhibiting NAFLD development to NASH. In a recent systematic review, Lin et al reported that FGF21 is highly sensitive and specific for diagnosis of mitochondrial diseases ( Lin et al, 2020 ). According to a study conducted by Ji et al FGF21 expression in mitochondrial diseases increases as a compensatory mechanism in energy metabolism.…”

Section: Discussionmentioning

confidence: 99%

Investigation of FGF21 mRNA levels and relative mitochondrial DNA copy number levels and their relation in nonalcoholic fatty liver disease: a case-control study

Houshmand

Zeinali

Hosseini

et al. 2023

Front. Mol. Biosci.

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Background: Although the exact mechanisms of nonalcoholic fatty liver disease (NAFLD) are not fully understood, numerous pieces of evidence show that the variations in mitochondrial DNA (mtDNA) level and hepatic Fibroblast growth factor 21 (FGF21) expression may be related to NAFLD susceptibility.Objectives: The main objective of this study was to determine relative levels of mtDNA copy number and hepatic FGF21 expression in a cohort of Iranian NAFLD patients and evaluate the possible relationship.Methods: This study included 27 NAFLD patients (10 with nonalcoholic fatty liver (NAFL) and 17 with non-alcoholic steatohepatitis (NASH)) and ten healthy subjects. Total RNA and genomic DNA were extracted from liver tissue samples, and then mtDNA copy number and FGF21 expression levels were assessed by quantitative real-time PCR.Results: The relative level of hepatic mtDNA copy number was 3.9-fold higher in patients than in controls (p < 0.0001). NAFLD patients showed a 2.9-fold increase in hepatic FGF21 expression compared to controls (p < 0.013). Results showed that hepatic FGF21 expression was positively correlated with BMI, serum ALT, and AST levels (p < 0.05). The level of mitochondrial copy number and hepatic FGF21 expression was not significantly associated with stages of change in hepatic steatosis. Finally, there was a significant correlation between FGF21 expression and mitochondrial copy number in NAFLD patients (p = 0.027).Conclusion: Our findings suggest a considerable rise of hepatic FGF21 mRNA levels and mtDNA-CN and show a positive correlation between them in the liver tissue of NAFLD patients.

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Section: Discussionmentioning

confidence: 99%

Investigation of FGF21 mRNA levels and relative mitochondrial DNA copy number levels and their relation in nonalcoholic fatty liver disease: a case-control study

Houshmand

Zeinali

Hosseini

et al. 2023

Front. Mol. Biosci.

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“…A recent meta-analysis comprehensively examined randomized controlled clinical trials to reinvestigate the diagnostic accuracy of FGF-21 and GDF-15 for PMDs. FGF-21 and GDF-15 showed a pooled sensitivity and specificity of 0.71, 0.88 and 0.83, 0.92, respectively [ 21 ]. Neuroimaging, nerve conduction studies, electromyography, cardiac and retinal evaluation may support the diagnosis [ 22 , 23 ].…”

Section: Diagnosis Of Mitochondrial Disordersmentioning

confidence: 99%

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

Lopriore

Ricciarini

Siciliano

et al. 2022

Neurology International

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Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to proprioceptive loss. Despite mitochondrial ataxias having no specific defining features, they should be included in hereditary ataxias differential diagnosis, given the high prevalence of PMDs. This review focuses on the clinical and neuropathological features and genetic background of PMDs in which ataxia is a prominent manifestation.

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“…FGF21 is a serum biomarker for several primary mitochondrial disorders (PMD) with high sensitivity and accuracy [ 126 , 127 , 128 , 129 ]. A recent meta-analysis of the literature which included five randomized controlled trials encompassing 718 FGF21 assessments demonstrated the utility of FGF21 as a promising biomarker for mitochondrial disease diagnosis [ 130 ]. The proposed mechanism of action regulating levels of FGF21 was by activating the mTOR-PGC1α pathway in PMD patients [ 131 ].…”

Section: Physiology and Clinical Significance Of Endocrine Fgfsmentioning

confidence: 99%

The Saga of Endocrine FGFs

Phan

Saikia

Sonnaila

et al. 2021

Cells

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Fibroblast growth factors (FGFs) are cell-signaling proteins with diverse functions in cell development, repair, and metabolism. The human FGF family consists of 22 structurally related members, which can be classified into three separate groups based on their action of mechanisms, namely: intracrine, paracrine/autocrine, and endocrine FGF subfamilies. FGF19, FGF21, and FGF23 belong to the hormone-like/endocrine FGF subfamily. These endocrine FGFs are mainly associated with the regulation of cell metabolic activities such as homeostasis of lipids, glucose, energy, bile acids, and minerals (phosphate/active vitamin D). Endocrine FGFs function through a unique protein family called klotho. Two members of this family, α-klotho, or β-klotho, act as main cofactors which can scaffold to tether FGF19/21/23 to their receptor(s) (FGFRs) to form an active complex. There are ongoing studies pertaining to the structure and mechanism of these individual ternary complexes. These studies aim to provide potential insights into the physiological and pathophysiological roles and therapeutic strategies for metabolic diseases. Herein, we provide a comprehensive review of the history, structure–function relationship(s), downstream signaling, physiological roles, and future perspectives on endocrine FGFs.

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Accuracy of FGF‐21 and GDF‐15 for the diagnosis of mitochondrial disorders: A meta‐analysis

Cited by 17 publications

References 41 publications

Investigation of FGF21 mRNA levels and relative mitochondrial DNA copy number levels and their relation in nonalcoholic fatty liver disease: a case-control study

Investigation of FGF21 mRNA levels and relative mitochondrial DNA copy number levels and their relation in nonalcoholic fatty liver disease: a case-control study

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

The Saga of Endocrine FGFs

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