Preliminary Research Highlights Genetic Element Showing Possible Treatment Prospects for Barth Syndrome
In a groundbreaking discovery, an international collaboration of scientists has identified a potential new therapeutic target for Barth Syndrome, a rare X-linked genetic condition. The study, published in the prestigious journal Nature, was led by Dr. Christine Mayr, who is currently working in the lab of Professor Jason Moffat at the University of Toronto.
The Tafazzin gene, essential for healthy mitochondria, is often mutated in individuals with Barth Syndrome. This mutation leads to less cardiolipin and more monolysocardiolipin in tissues, which disrupts mitochondrial function and structure. The build-up of monolysocardiolipin is a key factor in the development of Barth Syndrome's debilitating symptoms, including muscle weakness, frequent infections, and cardiomyopathy.
The study suggests that targeting the ABHD18 gene could be a viable therapeutic alternative to fixing the Tafazzin gene directly, which is considered complex. The ABHD18 gene acts as a suppression gene that affects the pathway involved in CL production. Inactivation of the ABHD18 gene in cells and mice results in a shift to normal CL levels in serum and tissues.
In preclinical studies, improved mitochondrial health and heart function have been observed in zebrafish models and patient-derived cells after blocking ABHD18 with a small-molecule drug called ABD646. The effects on Barth Syndrome are one of the most striking examples of a disease modifier the research team has ever seen, according to Vincent Blomen, PhD, study co-lead and senior director of discovery sciences at Scenic Biotech.
Professor Moffat emphasizes the potential of this research to inform new therapies and care for rare conditions like Barth Syndrome. He states that the discovery provides a direct path to correcting the underlying problem of Barth Syndrome and can offer real hope for patients and families.
Heart transplants can help manage cardiac symptoms, but many children with Barth Syndrome do not live past early childhood. This new development could potentially offer a more targeted and less invasive treatment option, improving the quality of life and life expectancy for those affected by this rare condition.
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