ANK2 and Associated Diseases
Creative Biolabs is a world-leading biotechnology company that has been at the forefront of gene therapy research for decades. We are willing to share background knowledge related to gene therapy. Here, we provide a brief introduction to the Ankyrin 2 (ANK2) gene.
Overview of ANK2
ANK2 is one of three similar but distinct ankyrin genes (ANK1, ANK2, and ANK3). The protein encoded by the ANK2 gene is about 220 kDa in size. ANK2 is a member of the ankyrin family, which interacts with many other proteins in cells throughout the body. Furthermore, ankyrins are closely linked to cell migration and cell proliferation. Although ubiquitously expressed, ANK2 protein exhibited high expression levels in cardiac muscle and lower expression in skeletal muscle. In the heart, the flow of ions through ion channels and ion transporters produces electrical signals that help control the heartbeat and maintain a normal heart rhythm. In fact, ANK2 plays an important role in the localization and membrane stabilization of ion transporters and ion channels.
Fig.1 Ankyrin-B p.L1622I variant alters in vivo cardiac Ankyrin-B expression. (Musa, 2016)
ANK2 and Associated Diseases
Diseases associated with ANK2 include long QT syndrome and Ankyrin-B syndrome. Furthermore, alterations in ANK2 are risk factors for autism spectrum disorder (ASD) and Parkinson's disease (PD).
- Long QT syndrome
Long QT syndrome is a type of heart disease that causes the heart muscle to charge longer than usual between beats. In people with this disorder, a part of the heartbeat called the QT interval is abnormally long. An abnormal heart rate can lead to an abnormal heart rhythm. Arrhythmias caused by certain types of long QT syndrome can lead to fainting or sudden death.
- Ankyrin-B syndrome
Ankyrin-B syndrome is a class of atypical arrhythmias with bradycardia, atrial fibrillation, and conduction block. Such disorders involve disruption of the normal rhythm of the heart, which is regulated by highly coordinated electrical signals. In these disorders, disruptions in electrical signals are accompanied by cardiac arrhythmias, leading to fainting or cardiac arrest.
Related Mechanisms
The ANK2 protein is actively expressed in many cells, especially in the brain and heart muscles. This protein mainly interacts with ion channels and ion transporters. ANK2 is closely related to the cellular organization of Na/K ATPases and Na/Ca exchangers. Results in mouse models suggest that point mutations in ANK2 lead to ANK2 haploinsufficiency, resulting in a cardiac phenotype similar to that of humans with loss-of-function variants of ANK2. Furthermore, in patients with heart failure, ANK2 protein levels were altered. Further mechanistic studies revealed that reactive oxygen species, intracellular calcium, and calpain all affect the levels of this protein and that ANK2 is critical for normal cardioprotection after ischemia-reperfusion injury.
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Reference
- Musa, H., Murphy.; et al. Common human ANK2 variant confers in vivo arrhythmia phenotypes. Heart Rhythm. 2016, 13(9): 1932-1940.
