Annals of medicine and surgery (2012) · 2025
Letter to the Editor: CRISPR-based gene editing for cardiac protection in Barth syndrome.
Письмо в редакциюНазвание и аннотация: Перевод в очереди
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Abedin Zain Ul, Waggan Anzah Imtiaz, Khan Esha, Suleman Muhammad Umer, Tabassum Syeda Nafisa
Аннотация
Barth syndrome is a rare X-linked mitochondrial disorder caused by mutations in the Tafazzin (TAZ) gene. These mutations make it hard for cardiolipin to remodel and mitochondria to work properly. This condition is characterized by growth retardation, neutropenia, skeletal myopathy, and dilated cardiomyopathy, frequently leading to significant morbidity and mortality, with numerous patients necessitating heart transplants. There are no treatments available at this time to fix the genetic problem. Recent progress in gene editing, especially CRISPR-based methods, holds great promise for fixing TAZ mutations. Research utilizing patient-derived cardiomyocytes has demonstrated that the rectification of TAZ mutations reinstates mitochondrial efficiency and enhances cellular functionality. Animal models, including TAZ-knockout mice, have exhibited substantial enhancements in cardiac function, survival rates, and diminished fibrosis subsequent to gene replacement therapy.