Arterial Tortuosity Syndrome (ATS) is a rare genetic condition that affects the body’s connective tissues, causing major arteries to twist and elongate, which can lead to serious health issues including arterial dilatation, rupture and narrowing. Patient may further show skeletal, skin and ocular problems. ATS is caused by mutations in the SLC2A10 gene, that encodes a glucose transporter. In order to be affected with ATS, both the maternal and paternal gene copies should be defective. However, the mechanisms causing the disease are not yet fully understood.
Previous personal observations showed limited clinical manifestations (both cardiac and non-cardiac manifestations) in carriers of only one defective copy. Our aim is to uncover important insights about the penetrance of manifestations in carriers of rare variants in SLC2A10. For that, we will access the prevalence of these variants in the UKBiobank cohort and explore potential correlations between carriers and clinical indicators, leveraging data of the full cohort with particular interest in cardiovascular associated traits. This could lead to a better understanding of the condition’s manifestations and help tailor management accordingly.
The project relies on the exploration of the available data, which will result in further development of hypothesis and analysis, and for that we estimate a one year with no clear end date.
By analyzing the UK biobank data, the project aims to understand how SLC2A10 variants influence cardiovascular and general health, leading to better diagnosis, prognosis, and treatment options for individuals affected by this condition. Ultimately, the research could have a positive impact on public health by reducing the burden of SLC2A10 pathogenic variation and its associated cardiovascular complications. It may also help identify new targets for potential treatments, enhancing the quality of life for those living with ATS.
