Salk Institute for Biological Studies, La Jolla, CA, USA.
Universidad Católica San Antonio de Murcia, Murcia, Spain.
Nat Med. 2019 Mar;25(3):419-422. doi: 10.1038/s41591-019-0343-4. Epub 2019 Feb 18.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare lethal genetic disorder characterized by symptoms reminiscent of accelerated aging. The major underlying genetic cause is a substitution mutation in the gene coding for lamin A, causing the production of a toxic isoform called progerin. Here we show that reduction of lamin A/progerin by a single-dose systemic administration of adeno-associated virus-delivered CRISPR-Cas9 components suppresses HGPS in a mouse model.
亨廷顿舞蹈症-吉福德早衰综合征（HGPS）是一种罕见的致命遗传性疾病，其特征是具有加速衰老的症状。主要的潜在遗传原因是编码核纤层蛋白 A 的基因突变，导致产生一种称为 progerin 的毒性异构体。在这里，我们表明，通过单次系统给予腺相关病毒递送的 CRISPR-Cas9 组件来减少核纤层蛋白 A/progerin，可抑制小鼠模型中的 HGPS。
