Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015. We used PCR-Sequencing to identify any sequence variations in the PAH gene.
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Article Synopsis
- Pulmonary artery hypertension (PAH) exhibits a metabolic shift towards aerobic glycolysis, resembling cancer metabolism, and involves the role of NSD2, though its exact function is not fully understood.
- Increased expression of FOLR1 in PAH tissues was linked to NSD2, and silencing either NSD2 or FOLR1 inhibited cell proliferation and the progression of PAH.
- The study found that NSD2 influences the activity of FOLR1, affecting glycolytic gene expression and metabolic processes in pulmonary artery endothelial cells, suggesting a potential pathway for therapeutic intervention in PAH.
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