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Profile of plasma free amino acids, carnitine and acylcarnitines, and JAK2 v617f mutation as potential metabolic markers in children with type 1 diabetic nephropathy.
- Source :
-
Biomedical chromatography : BMC [Biomed Chromatogr] 2023 Dec; Vol. 37 (12), pp. e5747. Date of Electronic Publication: 2023 Sep 20. - Publication Year :
- 2023
-
Abstract
- Fifty diabetic nephropathy (DN) children with type 1 diabetes mellitus (T1DM) and 50 healthy matched controls were included. Chromatographic assays of 14 amino acids, free carnitine and 27 carnitine esters using high-performance liquid chromatography/electrospray ionization-mass spectroscopy, and genetic testing for JAK2 <superscript>v617f</superscript> mutation using real-time PCR were performed. Patients had significantly lower levels of tyrosine, branched-chain amino acids (BCAAs), and BCAA/AAA (aromatic chain amino acids) ratios, glycine, arginine, ornithine, free carnitine and some carnitine esters (C5, 6, 12 and 16) and higher phenylalanine, phenylalanine/tyrosine ratio and C18 compared with the controls and in the macro-albuminuria vs. the microalbuminuria group (p < 0.05 for all) except for free carnitine. Plasma carnitine was negatively correlated with eGFR (r = -0.488, p = 0.000). There were significant positive correlations between tyrosine with UACR ratio (r = 0.296, p = 0.037). The plasma BCAA/AAA ratio showed significant negative correlations with UACR (r = -0.484, p = 0.000). There was a significantly higher frequency of the JAK2 <superscript>V617F</superscript> gene mutation in diabetic nephropathy patients compared with the control group and in macro-albuminuria than the microalbuminuria group (p = 0.000) for both. When monitoring children with T1DM, plasma free amino acids and acylcarnitine profiles should be considered, especially if they have tested positive for JAK2 <superscript>V617F</superscript> for the early diagnosis of DN.<br /> (© 2023 John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 1099-0801
- Volume :
- 37
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Biomedical chromatography : BMC
- Publication Type :
- Academic Journal
- Accession number :
- 37728037
- Full Text :
- https://doi.org/10.1002/bmc.5747