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The polyamine metabolic pathway and associated genetic disorders

ODC and polyamines are intrinsically involved in the regulation of embryogenesis, organogenesis, and tumorigenesis. This occurs through tight regulation of putrescine, spermidine, and spermine, all of which control cell division and proliferation. Spermidine is substrate to eIF5A and essential for its hypusination (activation) and therefore directly affects eIF5A-mediated protein translation events. Many polyamine pathway-linked genes including ODC1, SMS, and DHPS and their gene products (green circles) have recently been identified to cause syndromes with a common finding of global developmental delays in childhood. Other polyamine-associated genes such as DOHH, AMD1, eIF5A, MAT1A/B, MYC, or MYCN may also be involved in similar genetic disorders. Collectively, they represent a new condition, which the authors refer to as polyaminopathy spectrum disorder (PSD).

Figure and legend republished from Schultz et al [2019]