Inflammation, a Significant Player of Ataxia–Telangiectasia Pathogenesis? Publisher Pubmed



Zakidizaji M^{1, 2} ; Akrami SM¹ ; Azizi G^{3, 4} ; Abolhassani H^{2, 5} ; Aghamohammadi A²
Source: Inflammation Research Published:2018

Abstract

Introduction: Ataxia–Telangiectasia (A-T) syndrome is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, chromosome instability, radiosensitivity, and predisposition to malignancy. There is growing evidence that A–T patients suffer from pathologic inflammation that is responsible for many symptoms of this syndrome, including neurodegeneration, autoimmunity, cardiovascular disease, accelerated aging, and insulin resistance. In addition, epidemiological studies have shown A–T heterozygotes, somewhat like deficient patients, are susceptible to ionizing irradiation and have a higher risk of cancers and metabolic disorders. Area covered: This review summarizes clinical and molecular findings of inflammation in A–T syndrome. Conclusion: Ataxia–Telangiectasia Mutated (ATM), a master regulator of the DNA damage response is the protein known to be associated with A–T and has a complex nuclear and cytoplasmic role. Loss of ATM function may induce immune deregulation and systemic inflammation. © 2018, Springer International Publishing AG, part of Springer Nature.