Laboratory of Genetics, Department of Biotechnology, School of Applied Biology and Biotechnology, Agricultural University of Athens, Athens, Greece.
University Research Institute of Maternal and Child Health & Precision Medicine, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
Adv Exp Med Biol. 2023;1423:41-57. doi: 10.1007/978-3-031-31978-5_5.
TANK-binding kinase 1 protein (TBK1) is a kinase that belongs to the IκB (IKK) family. TBK1, also known as T2K, FTDALS4, NAK, IIAE8, and NF-κB, is responsible for the phosphorylation of the amino acid residues, serine and threonine. This enzyme is involved in various key biological processes, including interferon activation and production, homeostasis, cell growth, autophagy, insulin production, and the regulation of TNF-α, IFN-β, and IL-6. Mutations in the TBK1 gene alter the protein's normal function and may lead to an array of pathological conditions, including disorders of the central nervous system. The present study sought to elucidate the role of the TBK1 protein in amyotrophic lateral sclerosis (ALS), a human neurodegenerative disorder. A broad evolutionary and phylogenetic analysis of TBK1 was performed across numerous organisms to distinguish conserved regions important for the protein's function. Subsequently, mutations and SNPs were explored, and their potential effect on the enzyme's function was investigated. These analytical steps, in combination with the study of the secondary, tertiary, and quaternary structure of TBK1, enabled the identification of conserved motifs, which can function as novel pharmacological targets and inform therapeutic strategies for amyotrophic lateral sclerosis.
TANK 结合激酶 1 蛋白(TBK1)是一种激酶,属于 IκB(IKK)家族。TBK1,也称为 T2K、FTDALS4、NAK、IIAE8 和 NF-κB,负责磷酸化丝氨酸和苏氨酸的氨基酸残基。这种酶参与了多种关键的生物学过程,包括干扰素的激活和产生、内稳态、细胞生长、自噬、胰岛素的产生以及 TNF-α、IFN-β 和 IL-6 的调节。TBK1 基因的突变改变了蛋白质的正常功能,可能导致一系列病理状况,包括中枢神经系统疾病。本研究旨在阐明 TBK1 蛋白在肌萎缩侧索硬化症(ALS)中的作用,ALS 是一种人类神经退行性疾病。对 TBK1 进行了广泛的进化和系统发育分析,以区分对蛋白质功能重要的保守区域。随后,探索了突变和单核苷酸多态性及其对酶功能的潜在影响。这些分析步骤与 TBK1 的二级、三级和四级结构研究相结合,确定了保守基序,这些基序可以作为新的药理学靶点,并为肌萎缩侧索硬化症提供治疗策略。