Key result
Dysfunction in ankyrin-based cellular pathways is associated with abnormal human cardiac function, representing a new mechanism in the genetics of arrhythmias and sudden cardiac death.
Ankyrin polypeptides play a crucial role in cardiac cell physiology, and their dysfunction represents a novel mechanism in the genetics of arrhythmias and sudden cardiac death.
Supports exploration of ankyrin pathways in arrhythmia genetics; does not yet inform clinical management.
Loss-of-function gene variants which affect the biophysical properties of ion channel proteins have long been associated with the destabilization of cardiac electrical activity, leading to human arrhythmia and sudden cardiac death. However, recent studies have also demonstrated the importance of ion channel/transporter-anchoring molecules for normal cardiac function. Ankyrins are a family of membrane adaptor proteins whose role in metazoan physiology has been elucidated over the last quarter of a century, but with great strides taken in the last half decade with regard to cardiac cell physiology. The association of dysfunction in ankyrin-based cellular pathways with abnormal human cardiac function represents a surprising turn in the genetics of arrhythmias and sudden cardiac death, demonstrating an exciting new player in the field of 'channelopathies'.
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Kline et al. (2006) conducted a review in Human arrhythmia and sudden cardiac death. Ankyrin polypeptides was evaluated. Dysfunction in ankyrin-based cellular pathways is associated with abnormal human cardiac function, representing a new mechanism in the genetics of arrhythmias and sudden cardiac death.
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