The drug treatment, already approved for use in patients, could offer new hope for some patients with brain bleeding and strokes.
New research, led by the University of Glasgow and published today Human Molecular Genetics, has shown that the compound sodium phenyl butyric acid could be used to reduce brain bleeding which can cause strokes when it is caused by a defect in a gene called collagen IV.
Mutations in these genes cause a genetic form of eye, kidney and vascular disease which affects the blood vessels in the brain and can cause brain bleeding, even in childhood.
The researchers, who included collaborators from the Universities of Manchester and Edinburgh, studied mice that have a similar defect in the collagen IV gene and develop the same disease as the patients. Using sodium phenyl butyric acid were able to reduce brain bleeding. However, the treatment did not treat either the eye or kidney disease associated with these genetic defects.
As a result, the researchers believe that for future treatments, patients with these mutations will need to be divided into groups based on their symptoms and medical history, and the mechanism that causes the disease. Scientists believe that this precision medicine approach will allow for better, more targeted treatment for patients.
While these genetic forms of the disease are rare, the same gene has also been implicated in common forms of brain bleeding in the general population, increasing the number of people that may ultimately benefit from this work.
Further research is now required to understand how these mutations cause the disease in the different tissues so that the strategies for treating all clinical signs, including the eye and kidney disease, can be developed.
Research will also be developed to explore how, and if, a similar treatment strategy could be applied to humans with brain bleeding caused by these genetic alterations.
Specific treatments that target brain bleeding, including common diseases such as haemorrhagic stroke that accounts for 15% of adult stroke, are currently lacking. Researchers now hope these new insights will be able to lead to new treatment opportunities for patients with these conditions.
Dr. Tom Van Agtmael, lead author of the study from the University of Glasgow, said: "There are no treatments for diseases due to collagen IV mutations and brain bleeding. It will also help to identify which patients are likely to be effective and which is not recommended or may be counter-indicative. treatments. "
The paper "Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease" is published in Human Molecular Genetics.
Stroke-causing mutant gene identified by scientists-along with a potential treatment
Frances E Jones et al. 4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease, Human Molecular Genetics (2018). DOI: 10.1093 / hmg / ddy369