Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we will assume that you are happy to receive all cookies and you will not see this message again. Click 'Find out more' for information on how to change your cookie settings.

A new collaborative project led by the Swietach group funded by the Propionic Acidemia Foundation will investigate the disease mechanisms and risk factors for cardiac disease caused by a severe inherited disorder.

Pawel SwietachPropionic acidemia (PA) is an inherited metabolic disorder affecting newborns and children in which the body cannot break down parts of protein and some types of fat. This inability causes a build-up of harmful substances such as propionic acid in the blood which can cause seizures, delays to normal development like walking and talking, and other health problems. 

Cardiac problems are common in PA, and dilated cardiomyopathy and long-QT syndrome are often the cause of childhood death. In order to treat and prevent these cardiac problems, it is necessary to understand the underlying mechanisms. Professor Pawel Swietach has been awarded a research grant from the Propionic Acidemia Foundation to learn more about these mechanisms and, once processes are described, identify targets for drugs or other interventions. According to Professor Swietach: "We believe that this ambition is achievable thanks to the wealth of knowledge about the heart and the vast repertoire of drugs approved for therapy in various other cardiac conditions. Many of these drugs could be “repurposed” for PA-associated disorders, giving hope to many families for a timely treatment."

Professor Swietach will be collaborating with Tom Milne, Associate Professor in Epigenetics at Oxford, Holger Kramer, an expert on proteomics, and Steve Krywawych, principal biochemist at Great Ormond Street Hospital in London. 

More information about the PAF award can be found in the Propionic Acidemia Foundation newsletter Spring 2021 (page 2).

Similar stories

Fellowship awarded to Huriye Atilgan to enhance our understanding of value-based decision-making

Congratulations are in order for Postdoctoral Research Scientist Dr Huriye Atilgan who has been awarded a prestigious Sir Henry Wellcome Postdoctoral Fellowship funded by the Wellcome Trust.

Frances Ashcroft and Denis Noble honoured by the IUPS Academic of Physiology

Professors Dame Frances Ashcroft and Denis Noble have been elected Fellows of the the International Union of Physiological Sciences (IUPS) Academy of Physiology in the inaugural year of its Fellowships.

Sherrington Talks 2021 Prize Winners

The 2021 Sherrington talks were presented by graduate students in their third year of DPhil research study.

Iron deficiency anaemia in early pregnancy increases risk of heart defects, suggests new research

In animal models, iron deficient mothers have a greatly increased risk of having offspring with congenital heart disease (CHD). The risk of CHD can be greatly reduced if the mother is given iron supplements very early in pregnancy. Additionally, embryos from a mouse model of Down Syndrome were particularly vulnerable to the effects of maternal iron deficiency, leading to a higher risk of developing severe heart defects.

Nicola Smart to deliver John French Lecture

The British Atherosclerosis Society's John French Memorial Lecture is named in honour of the Oxford-based pathologist, Dr John French, who made seminal observations and contributions to the field of cardiovascular pathology.