研究人员确定了全套感光基因

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大约每 2000 人中就有 1 人面临患上遗传性视网膜疾病的风险——这些疾病可能会夺走患者的视力。 但这样的损失可能有一天会成为过去,这部分要归功于今天在《细胞》杂志上描述的发现。 根据该报告,研究人员在小鼠身上鉴定出全套视觉基因,其中大多数基因在人类中都有对应物。

哈佛医学院遗传学家康妮·塞普科 (Connie Cepko) 及其同事在感光神经元(通常称为视杆细胞和视锥细胞的视网膜细胞)中发现了 300 个基因表达。 其中只有 36 个基因是先前已知的。“这使得感光细胞成为体内表征最充分的细胞类型,”塞普科观察到。 这项工作应有助于鉴定出那些以突变形式导致黄斑变性等疾病的基因。 通过更好地了解这些基因的功能,研究人员最终可能能够替换受损细胞——塞普科推测,也许可以通过操纵基因,从而诱导干细胞产生替代感光细胞。 事实上,“我们对基因的工作方式了解得越多,”她评论道,“我们就越能找到治疗甚至可能预防疾病的方法。”

Kate Wong is an award-winning science writer and senior editor at 大众科学 focused on evolution, ecology, anthropology, archaeology, paleontology and animal behavior. She is fascinated by human origins, which she has covered for more than 25 years. Recently she has become obsessed with birds. Her reporting has taken her to caves in France and Croatia that Neandertals once called home, to the shores of Kenya's Lake Turkana in search of the oldest stone tools in the world, to Madagascar on an expedition to unearth ancient mammals and dinosaurs, to the icy waters of Antarctica, where humpback whales feast on krill, and on a "Big Day" race around the state of Connecticut to find as many bird species as possible in 24 hours. Kate is co-author, with Donald Johanson, of Lucy's Legacy: The Quest for Human Origins. She holds a bachelor of science degree in biological anthropology and zoology from the University of Michigan. Follow Wong on X (formerly Twitter) @katewong

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