Skip to main content

Mapping the genes and disease mechanisms behind elevated blood lipids

Hereditary blood lipid disorders are a common reason why some people develop cardiovascular problems such as heart attacks and strokes early in life. In order to identify and treat patients at an early stage, researchers at Karolinska Institutet will now be investigating the molecular mechanisms behind these diseases in more detail.

Elevated levels of the blood lipids cholesterol and triglycerides that are inherited via a dominant gene, i.e. half the children of an affected patient will inherit the condition, can be found in approximately two per cent of the population. In most cases the researchers do not yet know the molecular mechanisms behind these diseases. Therefore, more knowledge is needed regarding these mechanisms in order to optimise diagnosis and treatments, in particular the capability to identify and treat patients that do not yet have any of the symptoms of elevated blood lipids.

Identifying high risk patients

In order to find out what genes are important, the researchers will study the DNA of both healthy and affected people from families with the most common blood lipid disorders: familial hypercholesterolaemia (FH), familial hypertriglyceridaemia (FHTG) and familial combined hyperlipidaemia (FCHL). This work will involve the development of new, quick and cheap screening methods that can be used to identify and treat those who are at risk of being afflicted by these diseases.

"Hereditary blood lipid disorders are a common cause of cardiovascular disease in relatively young people", says Bo Angelin. "They need to be detected and treated early, and our research will improve the diagnosis and treatment of this important group of patients. If we can identify new disease-related gene changes, this will also lead to the development of new medication, which will be of benefit to a larger group of patients with high levels of cardiovascular risk."