Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene-disrupted mice

J Inherit Metab Dis. 2022 May;45(3):621-634. doi: 10.1002/jimd.12489. Epub 2022 Feb 28.

Abstract

6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) is an essential cofactor for aromatic L-amino acid hydroxylases, including tyrosine hydroxylase (TH), alkylglycerol monooxygenase, and three types of nitric oxide (NO) synthases (NOS). Sepiapterin reductase (SPR) catalyzes the third step of BH4 biosynthesis. SPR gene-disrupted (Spr-/- ) mice exhibit a dystonic posture, low body weight, hyperphenylalaninemia, and unstable hypertension with endothelial dysfunction. In this study, we found that Spr-/- mice suffered from a high incidence of severe priapism. Their erections persisted for months. The biopterin, BH4, and norepinephrine contents, and TH protein levels in the penile tissue of Spr-/- mice without and with priapism were significantly reduced compared to those of Spr+/+ mice. In contrast, their neural NOS (nNOS) protein levels were increased, and the cyclic guanosine monophosphate (cGMP) levels were remarkably elevated in the penises of Spr-/- mice with priapism. The symptoms were relieved by repeated administration of BH4. The biopterin, BH4, and norepinephrine contents were increased in penile homogenates from BH4-supplemented Spr-/- mice, and the TH protein levels tended to increase, and their nitrite plus nitrate levels were significantly lower than those of vehicle-treated Spr-/- mice and were approximately the same as vehicle- and BH4-supplemented Spr+/+ mice. Thus, we deduced that the priapism of Spr-/- mice is primarily caused by hypofunction of the sympathetic neurons due to cofactor depletion and the loss of TH protein and, further, dysregulation of the NO/cGMP signaling pathway, which would be caused by disinhibition of nNOS-containing neurons and/or abnormal catabolism of cyclic nucleotides is suggested.

Keywords: cyclic guanosine monophosphate; nitric oxide; norepinephrine; priapism; tetrahydrobiopterin; tyrosine hydroxylase.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alcohol Oxidoreductases
  • Animals
  • Biopterins / analogs & derivatives
  • Biopterins / metabolism
  • Humans
  • Male
  • Mice
  • Neurons / metabolism
  • Norepinephrine / metabolism
  • Priapism* / etiology
  • Tyrosine 3-Monooxygenase / metabolism

Substances

  • Biopterins
  • Alcohol Oxidoreductases
  • sepiapterin reductase
  • Tyrosine 3-Monooxygenase
  • sapropterin
  • Norepinephrine