Carin de Villiers
BSc (Hons), PhD
My research focuses on inherited heart disease. I investigate genetic changes that cause or predispose individuals to life threatening cardiac events.
My interest is the electrical conduction system of the heart. This system is controlled by a number of cardiac ion channels and regulatory proteins. It relies on many specialised protein complexes, assembled and activated at the right time and place to ensure a coordinated, rhythmic heartbeat.
My work looks at those protein complexes and how they are affected by genetic variation. Doing so, I identified the AKAP9 gene as a modifier of the Long QT syndrome, capable of influencing disease expression over and above the primary disease-causing mutation.
My current work looks at effects of specific causal mutations. These have been identified in families that have cardiomyopathies with unusual conduction defects. I carry out a combination of functional assays to evaluate changes in protein binding, stability, and sub-cellular localisation using both bacterial and mammalian cells.
Cardiac abnormalities result in significant adverse outcomes for patients. Identifying and confirming causal mutations has the potential to enable the early diagnosis of these life-threatening conditions.
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Hastings R. et al, (2016), Circ cardiovasc genet, 9, 426 - 435
Filamin C: a novel component of the KCNE2 interactome during hypoxia
Neethling A. et al, (2016), Cardiovascular journal of africa, 27, 4 - 11
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.
de Villiers CP. et al, (2014), Circ cardiovasc genet, 7, 599 - 606
Long QT syndrome - a genetic cardiac channelopathy.
Szeliga MA. et al, (2010), Kardiol pol, 68, 575 - 583