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From genes to treatment: How far have scientists come in the search for a cure for Barth syndrome?
Barth syndrome (BTHS) is a rare and serious X-linked genetic disease, mainly caused by changes in phospholipid structure and metabolism. Although this condition can affect multiple body systems, it is primarily characterized by cardiomyopathy that begins in pediatrics and is worrisome for its potential fatality. The disease is diagnosed almost exclusively in men. In particular, core features of Barth syndrome include cardiomyopathy, long-term or cyclic neutropenia, poor muscle development and weakness, and delayed growth.
There is currently no treatment for Barth syndrome, but some symptoms can be effectively managed.
Although Barth syndrome manifests in a variety of ways, many patients show hypotonia at birth and develop signs of cardiomyopathy within the first few months of life. As age increases, the height and weight of these patients significantly lag behind the average. For most patients, intellectual development is normal, but some patients show mild or moderate learning disabilities.
Cardiomyopathy is one of the more severe manifestations of Barth syndrome, in which the heart muscle expands and reduces the ability of the ventricles to contract.
The main cause of Barth syndrome is mutations in the tafazzin gene (TAZ), which is highly expressed in cardiac and skeletal muscles. TAZ mutations of any type are strongly associated with Barth syndrome. In 2008, scientist Kulick discovered that all patients with Barth syndrome tested had abnormalities in cardiolipin. Cardiolipin is a lipid located inside the mitochondria of cells and is closely related to the electron transport chain protein and the membrane structure of the mitochondria.
Currently, early diagnosis of Barth syndrome is critical but complicated by the variability of symptoms. Diagnosis usually relies on a number of tests, including blood tests, urinalysis, and heart ultrasound. These tests can help identify the presence of cardiomyopathy and neutropenia.
A final diagnosis of Barth syndrome can only be made if severe cardiomyopathy is clearly demonstrated.
In addition, treatments for Barth syndrome are still being explored. Although there is no cure for the disease, some symptoms can be alleviated through professional management. Clinical trials conducted at the University of Florida in the United States show that AAV9-mediated TAZ gene replacement therapy shows promise, but the approval of this therapy still requires more research.
In 2024, the Cardiovascular and Renal Drugs Advisory Committee voted 10 to 6 that elamipretide is effective in the treatment of this rare disease caused by mutations in the TAFAZZIN gene. The role of elamipretide is to theoretically improve mitochondrial function in patients with cardiolipin deficiency.
Epidemiological data on Barth syndrome show a high proportion of male patients and the condition is generally underreported.
As for epidemiology, because of the X-linked nature of Barth syndrome, it is mainly diagnosed in men (more than 120 male cases as of July 2009), with the first female case reported in 2012. According to reports in international literature, approximately one in every 454,000 people suffers from Barth syndrome, but the actual situation may be more complicated.
Barth syndrome has been named since 1983 by Dr. Peter Barth, a Dutch pediatric neuroscientist whose research revealed the genetic nature of the disorder. As scientific research progresses, our understanding of this symptom is gradually improving, but many challenges remain.
In the process of continuing to explore new treatment methods, will there be a revolutionary treatment for Barth syndrome in the future? We still need to look forward to and think about it?
