Auditory and Vestibular Characteristics of NLRP3 Inflammasome Related Autoinflammatory Disorders: Monogenic Hearing Loss Can Be Improved by Anti-interleukin-1 Therapy
Inflammasomes are large multimeric protein complexes which regulate the activation of the proinflammatory cytokines interleukins-1β and−18 and inflammatory cell death called pyroptosis. NLRP1, NLRP3, NLRC4, AIM2, and pyrin can induce the formation of inflammasomes. Of these, the NLRP3 inflammasome i...
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Frontiers Media S.A.
2022-04-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.865763/full |
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| author | Hiroshi Nakanishi Satoshi Yamada Junya Kita Daichi Shinmura Kumiko Hosokawa Sosuke Sahara Sosuke Sahara Kiyoshi Misawa |
| author_facet | Hiroshi Nakanishi Satoshi Yamada Junya Kita Daichi Shinmura Kumiko Hosokawa Sosuke Sahara Sosuke Sahara Kiyoshi Misawa |
| author_sort | Hiroshi Nakanishi |
| collection | DOAJ |
| description | Inflammasomes are large multimeric protein complexes which regulate the activation of the proinflammatory cytokines interleukins-1β and−18 and inflammatory cell death called pyroptosis. NLRP1, NLRP3, NLRC4, AIM2, and pyrin can induce the formation of inflammasomes. Of these, the NLRP3 inflammasome is the most well-characterized. Recent studies revealed that variants of the NLRP3 gene cause genetic diseases, including systemic inflammatory syndrome called cryopyrin-associated periodic syndrome (CAPS) and non-syndromic sensorineural hearing loss DFNA34. NLRP3 variants cause CAPS and DFNA34 by constitutively activating the NLRP3 inflammasome and increasing IL-1β release. Patients with CAPS show systemic inflammatory symptoms, and hearing loss is a characteristic feature. Patients with CAPS and DFNA34 show progressive bilateral sensorineural hearing loss. Hearing loss has unique characteristics that can be improved or stabilized by anti-interluekin-1 therapy, although it is usually difficult to alleviate genetic hearing loss by drugs. However, it should be noted that there is a window of opportunity to respond to treatment, and younger patients are most likely to respond. It is important to know the characteristics of CAPS and DFNA34 for early diagnosis, and mutation analysis of NLRP3 will lead to a definite diagnosis. In this review, we summarize the current understanding of the mechanisms of the NLRP3 inflammasome and characteristics of patients with CAPS and DFNA34, especially focused on auditory and vestibular findings. |
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| last_indexed | 2024-04-13T07:51:54Z |
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| spelling | doaj.art-d5e5ef0630844c12aeb90584d8a463142022-12-22T02:55:30ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-04-011310.3389/fneur.2022.865763865763Auditory and Vestibular Characteristics of NLRP3 Inflammasome Related Autoinflammatory Disorders: Monogenic Hearing Loss Can Be Improved by Anti-interleukin-1 TherapyHiroshi Nakanishi0Satoshi Yamada1Junya Kita2Daichi Shinmura3Kumiko Hosokawa4Sosuke Sahara5Sosuke Sahara6Kiyoshi Misawa7Department of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, JapanDepartment of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, JapanDepartment of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, JapanDepartment of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, JapanDepartment of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, JapanDepartment of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, JapanDepartment of Otorhinolaryngology, Numazu City Hospital, Numazu, JapanDepartment of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, JapanInflammasomes are large multimeric protein complexes which regulate the activation of the proinflammatory cytokines interleukins-1β and−18 and inflammatory cell death called pyroptosis. NLRP1, NLRP3, NLRC4, AIM2, and pyrin can induce the formation of inflammasomes. Of these, the NLRP3 inflammasome is the most well-characterized. Recent studies revealed that variants of the NLRP3 gene cause genetic diseases, including systemic inflammatory syndrome called cryopyrin-associated periodic syndrome (CAPS) and non-syndromic sensorineural hearing loss DFNA34. NLRP3 variants cause CAPS and DFNA34 by constitutively activating the NLRP3 inflammasome and increasing IL-1β release. Patients with CAPS show systemic inflammatory symptoms, and hearing loss is a characteristic feature. Patients with CAPS and DFNA34 show progressive bilateral sensorineural hearing loss. Hearing loss has unique characteristics that can be improved or stabilized by anti-interluekin-1 therapy, although it is usually difficult to alleviate genetic hearing loss by drugs. However, it should be noted that there is a window of opportunity to respond to treatment, and younger patients are most likely to respond. It is important to know the characteristics of CAPS and DFNA34 for early diagnosis, and mutation analysis of NLRP3 will lead to a definite diagnosis. In this review, we summarize the current understanding of the mechanisms of the NLRP3 inflammasome and characteristics of patients with CAPS and DFNA34, especially focused on auditory and vestibular findings.https://www.frontiersin.org/articles/10.3389/fneur.2022.865763/fullNLRP3inflammasomecryopyrin-associated periodic syndromehearing lossDFNA34anakinra |
| spellingShingle | Hiroshi Nakanishi Satoshi Yamada Junya Kita Daichi Shinmura Kumiko Hosokawa Sosuke Sahara Sosuke Sahara Kiyoshi Misawa Auditory and Vestibular Characteristics of NLRP3 Inflammasome Related Autoinflammatory Disorders: Monogenic Hearing Loss Can Be Improved by Anti-interleukin-1 Therapy Frontiers in Neurology NLRP3 inflammasome cryopyrin-associated periodic syndrome hearing loss DFNA34 anakinra |
| title | Auditory and Vestibular Characteristics of NLRP3 Inflammasome Related Autoinflammatory Disorders: Monogenic Hearing Loss Can Be Improved by Anti-interleukin-1 Therapy |
| title_full | Auditory and Vestibular Characteristics of NLRP3 Inflammasome Related Autoinflammatory Disorders: Monogenic Hearing Loss Can Be Improved by Anti-interleukin-1 Therapy |
| title_fullStr | Auditory and Vestibular Characteristics of NLRP3 Inflammasome Related Autoinflammatory Disorders: Monogenic Hearing Loss Can Be Improved by Anti-interleukin-1 Therapy |
| title_full_unstemmed | Auditory and Vestibular Characteristics of NLRP3 Inflammasome Related Autoinflammatory Disorders: Monogenic Hearing Loss Can Be Improved by Anti-interleukin-1 Therapy |
| title_short | Auditory and Vestibular Characteristics of NLRP3 Inflammasome Related Autoinflammatory Disorders: Monogenic Hearing Loss Can Be Improved by Anti-interleukin-1 Therapy |
| title_sort | auditory and vestibular characteristics of nlrp3 inflammasome related autoinflammatory disorders monogenic hearing loss can be improved by anti interleukin 1 therapy |
| topic | NLRP3 inflammasome cryopyrin-associated periodic syndrome hearing loss DFNA34 anakinra |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.865763/full |
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