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Original Research Article


Association of Fibroblast Growth Factor (Fgf-21) as a Screening Biomarker for Chronic Progressive External Ophthalmoplesia

 

Farnaz Farzaneh Dehkordi1*, Massoud Houshmand2, Majid Sadeghizadeh3, Mohsen Bahmani Kashkouli4 and Gholamreza Javadi1

1Biology Department, Science and Research Branch, Islamic Azad University, 2Medical Genetics Department, National Institute of Genetic Engineering and Biotechnology, 3Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University, 4Iran  University of Medical Sciences, Tehran, Iran.

 

*For correspondence: Email: farzaneh_farnaz2007@yahoo.com; Tel: +98-9127336690

 

Received: 15 December 2013                                                                                Revised accepted: 19 January 2014

 

Tropical Journal of Pharmaceutical Research, March 2014; 13(3): 377-381

http://dx.doi.org/10.4314/tjpr.v13i3.10   

Abstract

 

Purpose: To investigate whether or not fibroblast growth factor (FGF-21) can be used as a screening biomarker in chronic progressive external ophthalmoplesia (CPEO) patients.

Methods: FGF-21 concentration was measured in the serum of 24 patients with CEPO phenotype and 24 control samples by enzyme-linked immunosorbent assay (ELISA) and determined the deletion of mitochondrial genome by multiplex polymerase chain reaction (PCR).

Results: FGF-21 concentration in 50 % of CPEO patients showed notable differences from that in control subjects. FGF-21 concentration ratio in patient group, 2 disorder control groups (mitochondrial and non-mitochondrial) and normal group, respectively, was 294.87 ± 42.10 (p < 0.0001), 761.78± 75.07 (p < 0.0001), 124.26 ± 12.27 (p = 0.1203), 69.27 ± 10.09 (p = 0.2195). A statistically significant inverse correlation between FGF-21 concentration and age onset was found, with a significant difference (p < 0.05) in the age group ≤ 19 years (mean FGF-21 concentration, 460.36 pg/mL) and for the age group  ≥ 51years (mean concentration FGF-21, 57.87 pg/mL. Surprisingly, there was no significant difference between FGF-21 concentration and age in the mid-age group (20 – 50 years) .

Conclusion: These findings indicate that FGF-21 concentration significantly increases in CPEO patients like in other mitochondrial disorders and this factor can be used as a biomarker in primary diagnosis of mitochondrial disorders. In this regard, FGF-21 assay is only valid in teenagers and the > 50 years age group who show acute symptoms.

 

Keywords: Chronic progressive external ophthalmoplesia, Fibroblast growth factor-21, Mitochondrial disorders, Ophthalmoplesia, Biomarker.

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