PMC8048209_01
Polyamine cycle: role of copper enzymes
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F1
In particular, the results showed: (a) decreased levels of two metabolites linked to the polyamine cycle: 4-guanidino butanoate and beta-alanine; (b) decreased level of one metabolite linked to the amino acid tryptophan cycle: chinurenine; (c) decreased levels of two metabolites resulting from the catabolism of ascorbate: threonate and oxalate (Figures 1, 2. and 3).
Metabolic way of tryptophan/kynurenine.
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F2
In particular, the results showed: (a) decreased levels of two metabolites linked to the polyamine cycle: 4-guanidino butanoate and beta-alanine; (b) decreased level of one metabolite linked to the amino acid tryptophan cycle: chinurenine; (c) decreased levels of two metabolites resulting from the catabolism of ascorbate: threonate and oxalate (Figures 1, 2. and 3).
Chromatography from Sanger technique of the mutation c.1870-3A>G presented in ISj and Mo.
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F4
Sequencing analysis showed in ISj a heterozygous condition for a new variant c.1870-3A>G and in Mo a compound heterozygosity for two variants: c.98T>C (p.M33T) and c.1870-3A>G (Figure 4).
The figure shows the result of the pathogenicity prediction using the bioinformatics tool 'Alamut' (https://www.interactive-biosoftware.com/alamut-visual/). As indicated, the mutation could have the effect of altering the splicing site of the messenger RNA with a high probability of producing an incorrect maturation of the same messenger RNA that is translated into a protein of altered size and shape.
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F5
In silico study (https://www.interactive-biosoftware. com/alamut-visual/) indicated that c.1870-3A>G mutation could affect the splicing site of the mRNA with a high probability of producing an incorrect mRNA maturation that is translated into a protein of altered size and shape (Figure 5).