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.
Highlights
Many methods are used to study various diseases, such as mathematical models, cell models and patient volunteers
We found that the BmSPR gene of the lemon mutant had a point mutation same to the change of the gene in the Japanese lem mutant, which leads to premature translation termination and a five amino acid deletion at the carboxyl terminus
We investigated the relationship between this yellow body colour and the BmSPR gene of the lemon mutant through a multi-line validation experiment
Summary
Many methods are used to study various diseases, such as mathematical models, cell models and patient volunteers Of the individual, because diseases reflect the combined action of genes and environment Often, it is too 2 dangerous to carry out studies in patients directly and doing so involves ethical issues. It is too 2 dangerous to carry out studies in patients directly and doing so involves ethical issues To solve these problems, animal models of human disease are used in the laboratory. Animal models of human disease have many advantages. The main diseases studied include acquired immune deficiency syndrome, cancer, diabetes, nervous system diseases and cardiovascular diseases These animal models have been chosen for their respective advantages and characteristics. The silkworm has 8469 human homologous genes with 58% homology [6]
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