基因疗法,巴氏症候群 z-bio 2021-11-23 343

　　Barth syndrome is a rare metabolic disease in male children and is caused by mutations in a gene called TAZ. Barth syndrome can lead to life-threatening symptoms of heart failure, weakening of skeletal muscle and immune response and impairing body growth. A new study from Boston Children's Hospital shows that gene therapy can prevent or reverse cardiac dysfunction caused by Barth syndrome. The results were published in the journal Circulation Research.

　　In the article, the researchers created two mouse models of Barth syndrome, one of which is a systemic TAZ gene knockout model. The other is a mouse model specific to cardiac tissue. Most mice with whole body TAZ loss died before birth, apparently due to skeletal muscle weakness. However, some mice survived, and these mice developed progressive cardiomyopathy in later stages, including enlarged myocardium and lost the ability to pump blood. Their hearts also show scars, and the left ventricle is dilated and thin-walled, similar to human patients with dilated cardiomyopathy.