Base editing restored alpha-1 antitrypsin production in first patient, German-Chinese team reports
A German-Chinese team used base editing to correct the mutation in liver cells of one woman with inherited alpha-1 antitrypsin deficiency. She gave up weekly infusions, the authors report.
A German team working with Chinese colleagues used CRISPR/Cas9 base editing to correct a faulty site in liver cells of a patient with alpha-1 antitrypsin deficiency, according to science.mail.ru. The results were published in the Journal of Hepatology. The first patient was a woman who received a four-week course of therapy in Shanghai, including an infusion of the new preparation. science.mail.ru
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The disease and the standard approach
Alpha-1 antitrypsin deficiency is a severe inherited metabolic disorder caused by a genetic defect. The protective protein is produced incorrectly, so lung and liver tissue are damaged. Over time this leads to conditions such as emphysema or cirrhosis. The disease was long considered incurable, and in the most advanced cases only a full organ transplant could save the patient.
Classical gene therapy tries to deliver a healthy copy of the whole gene into the cell using viral vectors. Base editing works differently: it corrects the mutation itself. According to the authors, the failure arises from the wrong insertion of a single small block.
Result in the first patient
Before treatment the woman suffered from severe shortness of breath and had received lifelong replacement therapy for many years. She could not cope with physical exertion and had to change jobs. After the four-week therapy and the infusion, blood tests showed that her body again produced functional protein. science.mail.ru
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No side effects were observed, and she was able to stop the weekly infusions entirely. The material describes a single patient.
