Normalization of Hair Growth in Sparse Fur-Abnormal Skin and Hair (SPF-ASH) Mice by Introduction of the Rat Ornithine Transcarbamylase (OTC) Gene

July 1994 in “ Journal of Dermatological Science ”

Tokihiko Shimada, Masaaki Tashiro, Tamotsu Kanzaki, Takasi Noda, Takashi Murakami, Masaki Takiguchi, Masataka Mori, Ken–ichi Yamamura, Takeyori Saheki

ornithine transcarbamylase gene therapy OTC deficiency hair growth SPF-ASH mouse

TLDR Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.

The study focused on the sparse fur-abnormal skin and hair (SPF-ASH) mouse, a model for human ornithine transcarbamylase (OTC) deficiency, which exhibited symptoms like abnormal skin, delayed hair growth, and metabolic issues. Researchers introduced the rat OTC gene into SPF-ASH mice, resulting in hemizygous mice with normalized hair growth, normal metabolic markers, and increased OTC activity in the liver and small intestine compared to SPF-ASH mice. This demonstrated the potential of gene therapy in correcting the symptoms associated with OTC deficiency in this mouse model.

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Research cited in this study

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research Correction of Ornithine Transcarbamylase (OTC) Deficiency in Spf-Ash Mice by Introduction of Rat OTC Gene

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