Affiliation:
1. State Key Laboratory of Silkworm Genome Biology, Key Laboratory of Sericulture Biology and Genetic Breeding, Ministry of Agriculture and Rural Affairs, College of Biotechnology, Southwest University, Chongqing 400715, People's Republic of China
Abstract
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.
Funder
Project funded by Chongqing Special Postdoctoral Science Foundation
National Natural Science Foundation of China
Funds of China Agriculture Research System
Hi-Tech Research and Development 863 Program of China
the Fundamental Research Funds for the Central Universities in China
Cited by
10 articles.
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