New Yorker 08月14日
The Disease that Accelerates Aging in Kids
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本文报道了罕见的早衰症(Progeria)可能迎来治愈的新希望。早衰症是一种导致身体快速衰老、生命短暂的疾病,患者的身体机能会在青少年时期就呈现出如同老年人般的状态。文章介绍了由Dhruv Khullar撰写的基因编辑治疗的最新进展,并深入采访了一位患有该病的22岁年轻人Kaylee Halko,展现了疾病对患者生活的影响。文章还回顾了早衰症的发现历史以及目前全球患者的概况,强调了基因编辑技术在攻克这一罕见疾病上的潜力,以及其研究对理解衰老机制的深远意义。

🌟 早衰症(Progeria)是一种罕见的加速衰老疾病,患者在青少年时期便出现如同老年人般的身体特征,如皮肤紧绷、脱发、动脉硬化、骨骼脆弱等,多数患者难以活过15岁。该病每四百万分之一的婴儿中可能出现一人,全球患者数量极少,但其研究对于理解人类衰老过程具有重要意义。

🧬 基因编辑技术的最新进展为早衰症的治疗带来了突破性的希望。文章详细介绍了Dhruv Khullar关于一种新型基因编辑疗法的报道,该疗法有望从根本上解决导致早衰症的基因缺陷,为患者带来改变生命的治疗可能。

💖 文章通过采访一位22岁的早衰症患者Kaylee Halko,生动地展现了疾病对患者及其家庭的影响。Kaylee的经历突显了早衰症患者所面临的严峻挑战,同时也传递了即使面对如此罕见的疾病,生命依然可以充满意义和希望。

🔬 早衰症的病因与细胞内一种名为“早衰蛋白”(progerin)的异常蛋白质积累有关,这种蛋白质会损害细胞核,加速细胞老化。基因编辑技术旨在纠正产生早衰蛋白的基因缺陷,从而阻止或逆转疾病的进展。

For the first time, it seems plausible that progeria—a rare disease of rapid, brutal aging—could be cured. Dhruv Khullar reports on a new gene-editing treatment and spends time with a twenty-two-year-old living with the disease. Plus:

At twenty-two, Kaylee Halko has already lived longer than most people with progeria.Photographs by Logan White for The New Yorker

How an Ultra-Rare Disease Accelerates Aging

Teen-agers with progeria have effectively aged eight or nine decades. A cure could help change millions of lives—and shed light on why we grow old.

By Dhruv Khullar

In 1996, Leslie Gordon, a biologist and a pediatrics resident at a hospital in Rhode Island, gave birth to a son, Sam. For a few months, Sam seemed healthy. But Gordon and her husband, a pediatric emergency physician named Scott Berns, soon started to feel that something was wrong. Sam’s skin looked tight, shiny, and veiny. He lost hair and was hardly putting on any weight. Doctors couldn’t explain why. “It was driving me crazy,” Gordon said. “They’d say, ‘Oh, he’s small, but you guys are small, too.’ ” One evening, a colleague of Berns’s, Monica Kleinman, came over for dinner and looked across the table at Sam. “Something just clicked in my mind,” Kleinman told me. She’d seen features like Sam’s in a textbook. A few days later, she told Berns that Sam might have a rare, fatal condition called progeria. “It was one of the hardest things I’ve ever had to do,” Kleinman said. A specialist in New York confirmed the diagnosis. “Within a week, it was clear that there was nothing out there,” Gordon told me. “No research. No treatments. No hope.”

Progeria, which derives from the Greek for “early old age,” was first described in the late nineteenth century. It is a disease of rapid, brutal aging that is thought to afflict fewer than one in every four million babies. By the time children with progeria enter their teen-age years, their bodies have effectively aged eight or nine decades. They have a distinctive appearance: small, wizened, and bald, with wrinkled skin, rigid arteries, stiff joints, and weak bones. Many die of heart attacks before their fifteenth birthday. There are estimated to be about twenty people living with the condition in the U.S. and several hundred in the world.

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早衰症 基因编辑 罕见病 衰老机制 Progeria
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