Boys suffering from Barth syndrome, a genetic disease with a very high mortality rate, finally have a chance of a cure. This has been made possible by the research of Dr Karolina Mikulska-Ruminska, Professor at the Nicolaus Copernicus University in Toruń’s Institute of Physics. An article about the groundbreaking results of the work of an international group of scientists has just been published in Nature Metabolism.

Barth syndrome is a disease affecting boys correlated with the X chromosome. Patients suffer from serious problems with the heart, skeletal muscles which do not grow properly and have neurological problems, i.e. reduced visuospatial skills and limited mathematical abilities.

A group of almost 40 researchers decided to look at the topic comprehensively. Biochemical and biophysical experiments, computer modelling, and animal tests were carried out, as well as studies on biopsy samples from patients with Barth syndrome. The conclusions are groundbreaking for the case.

Read more: https://portal.umk.pl/pl/article/przelom-w-badaniach-nad-smiertelna-choroba