Is the EFHD2/Swiprosin-1 protein linked to Alzheimer’s disease?

Abstract

Purpose: The article provides information about the current state of knowledge regarding EFhd2/Swiprosin-1, i.e. a protein that may be associated with the process of neurodegeneration and Alzheimer’s disease. Views: Alzheimer’s disease is a commonly occurring debilitating disorder, the prevalence of which increases gradually with age – from below 1% at 65 years of age to as high as 40% over the age of 90. Genes are said to have a significant impact on the development of AD. EFhd2, also referred to as Swiprosin-1, is a calcium-binding protein, which is highly expressed in the central nervous system and linked with various pathological forms of tau proteins in tauopathies. EFhd2 is expressed in all sections of the brain. The physiological or pathological roles of EFhd2 have not yet been investigated thoroughly, and hence are not well understood. Studies show that EFhd2 is linked with the microtubule associated protein tau (MAPT) in a tauopathy mouse model (JNPL3), and in humans suffering from tauopathies, such as Alzheimer’s disease. Conclusions: The process of neuronal death which accompanies tauopathies is induced by the abnormal modification and gene expression of the tau protein. Nevertheless, the molecular mechanism responsible for neurotoxicity is still unknown. Various research results demonstrate that EFhd2 is a novel amyloid protein connected with the pathological form of the tau protein in the brain in AD and that the process of calcium binding may regulate the formation of the amyloid structures of EFhd2.