Sarcomeric α-Actinins and their Role in Human Muscle Disease

In skeletal muscle, the sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-line and crosslink actin thin filaments to maintain the structure of the sarcomere. Based on their known protein binding partners, the sarcomeric α-actinins are likely to have a number of structural, signaling and metabolic roles in skeletal muscle. In addition, the α-actinins interact with many proteins responsible for inherited muscle disorders. In this paper, we explore the role of the sarcomeric α-actinins in normal skeletal muscle and in the pathogenesis of a range of neuromuscular disorders.