Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency.

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

SUBMITTER: Jiang G 

PROVIDER: S-EPMC7137946 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature