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Inflammation, a significant player of Ataxia–Telangiectasia pathogenesis?

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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.

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Authors and Affiliations

  1. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Majid Zaki-Dizaji & Seyed Mohammad Akrami

  2. Research Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran University of Medical Science, 62 Qarib St., Keshavarz Blvd., Tehran, 14194, Iran

    Majid Zaki-Dizaji, Hassan Abolhassani & Asghar Aghamohammadi

  3. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran

    Gholamreza Azizi

  4. Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran

    Gholamreza Azizi

  5. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden

    Hassan Abolhassani

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Zaki-Dizaji, M., Akrami, S.M., Azizi, G. et al. Inflammation, a significant player of Ataxia–Telangiectasia pathogenesis?. Inflamm. Res. 67, 559–570 (2018). https://doi.org/10.1007/s00011-018-1142-y

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