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Study identifies new gene for heart problems associated with increased neurological disorder risk

18 November 2022

Stock image of a chromosome

A new study led by PhD student, Georgina Wren, has identified a genetic mechanism associated with heart rhythm abnormalities that can lead to heart failure, blood clots and brain-related complications including stroke and dementia.

The study builds upon previous research conducted at the School of Psychology which identified that those individuals with a deletion of a small part of the X chromosome, were at higher risk of being affected by heart rhythm abnormalities.

Using data from over half a million middle-aged individuals from the UK Biobank, this new study found that heart rhythm abnormalities were present in over 30% of individuals with the deletion in the X chromosome.

It was also found that these abnormalities frequently occur in combination with gut problems, asthma or anaemia, and may be caused by stress. However, episodes of arrhythmia typically resolved quickly and individuals responded well to intervention. Loss of the STS (steroid sulfatase) gene appeared to be particularly important in conferring heart problems.

Georgina Wren, said: “In this study we showed that adults with the genetic risk factor (deletions) are at significantly increased risk of developing an abnormal heart rhythm (AHR), as well as certain comorbid conditions."

"Individuals were overwhelmingly in favour of preventative screening for abnormal heart rhythms, which may promote early identification of any abnormalities and support long term management of the condition."

Georgina Wren

The study improves genetic counselling for deletion carriers, highlights specific deletion-carrying subgroups for heart monitoring, and suggests that further work in deletion carriers and experimental systems lacking STS will clarify biological pathways underlying increased heart rhythm abnormality risk.

You can read the full research paper in the Journal of Medical Genetics.

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