Analysis of the relationship between the level of very long chain fatty acid and ABCD1 gene mutation in X-linked adrenaldystrophy patients

Objective Analysis of the level of very long chain fatty acids in plasma of X-linked adrenoleukodystrophy and discussion of its relation with mutation of the gene. Methods 28 ALD hemizygotes and 9 heterozygotes collected from May 2013 to March 2017 were enrolled in this study. Concentrations of VLCFAs in plasma were quantitatively analyzed and the ABCD1 gene were sequenced. Results ①The concentration of 26: 0, C24: 0/C22: 0, C26: 0/C22: 0 were significantly different among hemizygotes, heterozygotes and control groups (P=0.000, respectively). VLCFAs concentrations had the tendency of positive correlation with three groups; ②37 ALD patients were identified with mutations in ABCD1 gene; ③According to the genotypes compared to base substitution group, the C26: 0 levels of the deletion-insertion group were higher(P=0.008). According to the amino acid change type the C26: 0 levels of the splicing-frameshift group were higher than the missense mutation group and nonsense mutation group (P=0.038). Conclusion Abnormal elevations in of VLCFAs concentrations including C26: 0, C24: 0/C22: 0, and C26: 0/C22: 0 were important for diagnosis of X-linked adrenoleukodystrophy. The concentration of C26: 0 can be used in predicting genetic mutations. Key words: Verylong-chain fatty acids (VLCFA); Gas chromatograph-massspectrometry (GC-MS); X-linked adrenoleukodystrophy; ABCD1 gene