研究人員確定了全套感光基因

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大約每 2000 人中就有 1 人面臨患上遺傳性視網膜疾病的風險——這些疾病可能會奪走患者的視力。 但這樣的損失可能有一天會成為過去,這部分要歸功於今天在《細胞》雜誌上描述的發現。 根據該報告,研究人員在小鼠身上鑑定出全套視覺基因,其中大多數基因在人類中都有對應物。

哈佛醫學院遺傳學家康妮·塞普科 (Connie Cepko) 及其同事在感光神經元(通常稱為視杆細胞和視錐細胞的視網膜細胞)中發現了 300 個基因表達。 其中只有 36 個基因是先前已知的。“這使得感光細胞成為體內表徵最充分的細胞型別,”塞普科觀察到。 這項工作應有助於鑑定出那些以突變形式導致黃斑變性等疾病的基因。 透過更好地瞭解這些基因的功能,研究人員最終可能能夠替換受損細胞——塞普科推測,也許可以透過操縱基因,從而誘導幹細胞產生替代感光細胞。 事實上,“我們對基因的工作方式瞭解得越多,”她評論道,“我們就越能找到治療甚至可能預防疾病的方法。”

Kate Wong is an award-winning science writer and senior editor at 大眾科學 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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