[P1-146] The Value of Serum Fibroblast Growth Factor 21 (FGF-21) in the Diagnosis of Mitochondrial Disease
[Objective]To prospectively determine the diagnostic value of serum fibroblast growth factor21 (FGF-21) as a biomarker for mitochondrial disease.
[Methods]We recruited clinical diagnosed MD and DNA test negative patients to use ELISA to measure FGF-21 concentrations in serum samples and retest the urine Mitochondrial gene mutation of the patients with high level FGF21, and demonstrate the previous false negative gene test, thus to confirm the possibility to use the FGF21 as a kind of biomarker for muscle-manifesting mitochondrial diseases. Then we test some of our DNA confirmed patients’ serum FGF21 level, and set disease control and healthy control group, matched for age where possible ,between January 2014 and March 2015, from Beijing Children’s Hospital. We assessed samples from these 3 groups and; We compared the FGF-21 concentrations among 3 groups and analysised the correlation among FGF-21 concentration, genotype and phenotype；compared these FGF-21 concentrations with values for lactate.
[Results]the experimental group was consisted of the 18 DNA diagnosed patients and it showed a significant difference on the FGF-21 concentrations of serum between the DNA confirmed MD patients and 2 control groups.Among the 18 patients confirmed by DNA analysis, 9 showed a significant increase in FGF-21 concentration, including 6 MELAS ,1 MERRF、 1 Leigh/MELAS overlap syndrome、1 Leigh’s syndrome; Another 9 patients didn’t show a significant increase in FGF-21 concentration, including 4 Leigh’s syndrome;3 MELAS;2 MDS. FGF-21 concentrations in serum was positively correlated with serum lactate.
[Conclusion]While the FGF-21 concentrations in serum is increased among MELAS, MERRF and Leigh/MELAS overlap syndrome, it shows that the increase of FGF-21 concentrations in serum has a great diagnostic value of the muscle-manifesting mitochondrial diseases.
[Methods]We recruited clinical diagnosed MD and DNA test negative patients to use ELISA to measure FGF-21 concentrations in serum samples and retest the urine Mitochondrial gene mutation of the patients with high level FGF21, and demonstrate the previous false negative gene test, thus to confirm the possibility to use the FGF21 as a kind of biomarker for muscle-manifesting mitochondrial diseases. Then we test some of our DNA confirmed patients’ serum FGF21 level, and set disease control and healthy control group, matched for age where possible ,between January 2014 and March 2015, from Beijing Children’s Hospital. We assessed samples from these 3 groups and; We compared the FGF-21 concentrations among 3 groups and analysised the correlation among FGF-21 concentration, genotype and phenotype；compared these FGF-21 concentrations with values for lactate.
[Results]the experimental group was consisted of the 18 DNA diagnosed patients and it showed a significant difference on the FGF-21 concentrations of serum between the DNA confirmed MD patients and 2 control groups.Among the 18 patients confirmed by DNA analysis, 9 showed a significant increase in FGF-21 concentration, including 6 MELAS ,1 MERRF、 1 Leigh/MELAS overlap syndrome、1 Leigh’s syndrome; Another 9 patients didn’t show a significant increase in FGF-21 concentration, including 4 Leigh’s syndrome;3 MELAS;2 MDS. FGF-21 concentrations in serum was positively correlated with serum lactate.
[Conclusion]While the FGF-21 concentrations in serum is increased among MELAS, MERRF and Leigh/MELAS overlap syndrome, it shows that the increase of FGF-21 concentrations in serum has a great diagnostic value of the muscle-manifesting mitochondrial diseases.