Journal
ROYAL SOCIETY OPEN SCIENCE
Volume 7, Issue 3, Pages -Publisher
ROYAL SOC
DOI: 10.1098/rsos.191888
Keywords
Bombyx mori; lemon mutant; BmSPR; sepiapterin reductase deficiency; animal model of human diseases
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Funding
- National Natural Science Foundation of China [31830094]
- Hi-Tech Research and Development 863 Program of China [2013AA102507]
- Fundamental Research Funds for the Central Universities in China [XDJK2019C014]
- Chongqing Special Postdoctoral Science Foundation [XmT2018058]
- Funds of China Agriculture Research System [CARS-18-ZJ0102]
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Human sepiapterin reductase (SR) deficiency is an inherited disease caused by SPR gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm lemon mutant could serve as a model of SR deficiency. A point mutation in the BmSPR gene led to a five amino acid deletion at the carboxyl terminus in the lemon mutant. In addition, classical phenotypes seen in SR deficient patients were observed in the lemon mutant, including a normal phenylalanine level, a decreased dopamine and serotonin content, and an increased neopterin level. A recovery test showed that the replenishment of l-dopa significantly increased the dopamine level in the lemon mutant. The silkworm lemon mutant also showed negative behavioural abilities. These results suggest that the silkworm lemon mutant has an appropriate genetic basis and meets the biochemical requirements to be a model of SR deficiency. Thus, the silkworm lemon mutant can serve as a candidate animal model of SR deficiency, which may be helpful in facilitating accurate diagnosis and effective treatment options of SR deficiency.
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