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Pyroptosis is a novel mode for programmed cell death discovered and confirmed in recent years. The Gasdermins (GSDMs) family is a key effector molecule mediating pyroptosis. As an important cause of extensive inflammatory damage and side effects of conventional chemotherapy drugs, anomalous pyroptosis has also been associated with hearing loss, tumor, and disorders of the immune system. The GSDME protein, encoded by the GSDME (DFNA5) gene, belongs to the GSDMs family and is a key factor mediating pyroptosis. Gain-of-function variants of the GSDME gene can lead to GSDME-related hearing loss, which shows an autosomal dominant inheritance. This article has reviewed the role of GSDME-mediated pyroptosis in the pathogenesis of GSDME-related hearing loss, with an aim to provide insights into the treatment of GSDME-related hearing loss.
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http://dx.doi.org/10.3760/cma.j.cn511374-20231004-00168 | DOI Listing |
Hum Genet
September 2025
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing, 100853, China.
Recessive variants in TWNK cause syndromes arising from mitochondrial DNA (mtDNA) depletion. Hearing loss is the most prevalent manifestation in individuals with these disorders. However, the clinical and pathophysiological features have not been fully elucidated.
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September 2025
MED-EL-GmbH, Innsbruck, Austria.
Introduction: Age related hearing loss is in the top ten contributors to the global burden of disease and one of the largest modifiable risk factors for age-related dementia. However, awareness of the consequences of untreated hearing loss is poor and many adults do not seek hearing assessment. Despite World Health Organisation recommendations, no EU country currently has a national adult screening programme.
View Article and Find Full Text PDFBackground: Cytomegalovirus (CMV) viremia is a critical concern and known by the presence of the virus DNA in the blood, which poses sever risks and develops many complications in immuno-compromised patients. When CMV is untreated, it can cause pneumonitis, colitis, hepatitis, and encephalitis. Current diagnosis relies on molecular methods with qPCR as the preferred method.
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