The discovery of a master “hearing gene” – Sox2 – revealed the potential root of deafness.
Occasionally, it is the unintended outcomes that lead to the greatest discoveries. This was particularly true in the accidental production of a transgenic mouse at HKUMed in the 1990s that sparked discussions among the Faculty’s scientists as well as researchers in the United Kingdom.
The mouse, which was produced by a PhD student from the School of Biomedical Sciences, earned the nicknamed “yellow submarine” for its yellow hair colour, unusual circling behaviour, and inability to swim.
Further study of the mutant yellow mouse over a period of 12 years enabled the research team to identify the gene Sox2, which instructs the growth of sensory organs in the mammalian inner ear that are essential for balance and the ability to sense sound.
The research was a breakthrough in identifying the “hearing gene”, providing the team with possible avenues for gene therapy. It also highlighted the important role of Sox2 for ear sensory development and the potential to manipulate the gene to instruct the cells to grow hair.
Thanks to this mixture of serendipity, interdisciplinary research, as well as ties with overseas scientists, the HKUMed team has been able to translate this discovery into practical clinical applications.
聽覺基因揭示潛在失聰根源
有時未能預計的小意外，反而造就最偉大的發現。「無心插柳柳成蔭」，正好用來描述90年代港大醫學院意外製造出的基因轉移老鼠，這發現引起學院以至英國科學家的熱烈討論。
老鼠由一名港大生物醫學學院的博士生製造，因毛髮黃色、不尋常地繞圈和不懂游泳，故獲「黃色潛水艇」綽號。研究團隊之後對老鼠進行了長達十二年的研究，期間成功識別Sox2基因。 Sox2基因負責指示哺乳類動物內耳感覺器官的生長，對於操控身體平衡和聽覺，不可或缺。
此研究是個大突破，成功識別「聽覺基因」，為基因治療開拓了新天地。此外，研究亦突顯出 Sox2對耳朵感覺發展的重要性，以及透過控制基因，指示細胞生長毛髮的潛力。
這重大發現原屬機緣巧合，全賴有跨學科研究和與海外科學家的聯繫，港大醫學院團隊得以之轉化成實際的臨床應用。