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逆转听力损失的基因疗法
时间:2021/12/20 16:26:02 来源:HearingReview 点击:2750

听力损失与至少100个不同基因的突变有关,但高达16%的遗传性听力损失可以追溯到一个基因,即STRC,它是非常常见的遗传原因。

  波士顿儿童医院开发的首创基因治疗技术成功地取代了内耳中的突变蛋白立体纤毛素,并逆转了小鼠的严重听力损失——有时恢复到正常听力水平。

  研究结果于12月15日发表在《科学进展》杂志上。

  EurekAlert网站上刊登了一篇详细介绍这项研究的文章。

  “It turns out that STRC gene variations are more common than we thought,which makes gene therapy for this disorder so important,”said Shearer,who worked with the Children’s Rare Disease Cohort Initiative to screen a large genomic data set for STRC mutations.

  The study was supported by the IDDRC(grant no.1U54HD090255),the Rare Disease Cohort initiative at Boston Children’s Hospital,the Jeffrey and Kimberly Barber Fund for Gene Therapy Research,the Usher Syndrome Society,and the Foundation Pour l’Audition.Holt is a scientific founder of Audition Therapeutics and an advisor to several biotech companies focused on inner ear therapeutics,and is an inventor on a patent for use of AAV9-PHP.B for gene delivery to the inner ear.The authors declare no other competing interests.

  Original Paper:Shubina-Oleinik O,Nist-Lund C,French C,Rockowitz S,Shearer AE,Holt JR.Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss.Science Advances.2021;7(51).

  Source:EurekAlert,Boston Children’s Hospital,Science Advances

  Image:Carl Nist-Lund,Holt/Géléoc Lab,Boston Children’s Hospital

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