Treatment of spinal muscular atrophy by sodium butyrate

Jan Gowth Chang, Hsiu Mei Hsieh-Li, Yuh Jyh Jong, Nancy M. Wang, Chang Hai Tsai, Hung Li

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337 引文 斯高帕斯(Scopus)


Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, leading to muscular paralysis with muscular atrophy. No effective treatment of this disorder is presently available. Studies of the correlation between disease severity and the amount of survival motor neuron (SMN) protein have shown an inverse relationship. We report that sodium butyrate effectively increases the amount of exon 7-containing SMN protein in SMA lymphoid cell lines by changing the alternative splicing pattern of exon 7 in the SMN2 gene. In vivo, sodium butyrate treatment of SMA-like mice resulted in increased expression of SMN protein in motor neurons of the spinal cord and resulted in significant improvement of SMA clinical symptoms. Oral administration of sodium butyrate to intercrosses of heterozygous pregnant knockout-transgenic SMA-like mice decreased the birth rate of severe types of SMA-like mice, and SMA symptoms were ameliorated for all three types of SMA-like mice. These results suggest that sodium butyrate may be an effective drug for the treatment of human SMA patients.

頁(從 - 到)9808-9813
期刊Proceedings of the National Academy of Sciences of the United States of America
出版狀態已發佈 - 2001 八月 14

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