NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

H Nakanishi, Y Kawashima, K Kurima… - Proceedings of the …, 2017 - National Acad Sciences
H Nakanishi, Y Kawashima, K Kurima, JJ Chae, AM Ross, G Pinto-Patarroyo, SK Patel…
Proceedings of the National Academy of Sciences, 2017National Acad Sciences
The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in
immune cells, including monocytes and macrophages. Activation of the NLRP3
inflammasome leads to IL-1β secretion. Gain-of-function mutations of NLRP3 result in
abnormal activation of the NLRP3 inflammasome, and cause the autosomal dominant
systemic autoinflammatory disease spectrum, termed cryopyrin-associated periodic
syndromes (CAPS). Here, we show that a missense mutation, p. Arg918Gln (c. 2753G> A) …
The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3 inflammasome leads to IL-1β secretion. Gain-of-function mutations of NLRP3 result in abnormal activation of the NLRP3 inflammasome, and cause the autosomal dominant systemic autoinflammatory disease spectrum, termed cryopyrin-associated periodic syndromes (CAPS). Here, we show that a missense mutation, p.Arg918Gln (c.2753G > A), of NLRP3 causes autosomal-dominant sensorineural hearing loss in two unrelated families. In family LMG446, hearing loss is accompanied by autoinflammatory signs and symptoms without serologic evidence of inflammation as part of an atypical CAPS phenotype and was reversed or improved by IL-1β blockade therapy. In family LMG113, hearing loss segregates without any other target-organ manifestations of CAPS. This observation led us to explore the possibility that resident macrophage/monocyte-like cells in the cochlea can mediate local autoinflammation via activation of the NLRP3 inflammasome. The NLRP3 inflammasome can indeed be activated in resident macrophage/monocyte-like cells in the mouse cochlea, resulting in secretion of IL-1β. This pathway could underlie treatable sensorineural hearing loss in DFNA34, CAPS, and possibly in a wide variety of hearing-loss disorders, such as sudden sensorineural hearing loss and Meniere’s disease that are elicited by pathogens and processes that stimulate innate immune responses within the cochlea.
National Acad Sciences