A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss

• Published in: Molecular genetics and metabolism Vol. 135; no. 4; pp. 333 - 341
• Main Authors: van Kempen, Carlijn M.A., Beynon, Andy J., Smits, Jeroen J., Janssen, Mirian C.H.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-04-2022
• Subjects: Adult; Audiological assessment; Auditory brainstem responses; Deafness; Diabetes Mellitus, Type 2; Hearing Loss; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Humans; Mitochondrial disease; Mitochondrial Diseases - complications; NMDAS; Retrospective Studies; Speech perception; Tonal audiogram; Audiological assessment; Tonal audiogram; NMDAS; Auditory brainstem responses; Mitochondrial disease; Hearing loss; Speech perception
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2022.02.003

Some pathogenic variants in mtDNA and nuclear DNA, affecting mitochondrial function, are associated with hearing loss. Behavioral and electrophysiological auditory performance are obtained from 62 patients, clinically diagnosed with different mitochondrial diseases (MD) using tone/speech audiometry and Auditory Brainstem Responses (ABR). Audiological variables (hearing loss type, pure tone average (PTA), interaural asymmetry, speech perception and brainstem neural conductivity) were analyzed and related to Newcastle Mitochondrial Disease Scale for Adults (NMDAS). In 35% of MDs, a mild to severe symmetrical sensorineural hearing loss (SNHL) was found. Patients with Maternally Inherited Diabetes and Deafness (MIDD) show significantly higher PTAs compared to other MDs. For all MDs, speech recognition scores were in accordance with their individual age- and gender-corrected tone audiometry, but ABR peak latencies were prolonged in patients with MIDD, Mitochondrial Encephalopathy Lactate acidosis and Stroke-like episodes (MELAS), Chronic Progressive External Ophthalmoplegia (CPEO) and Subacute necrotizing encephalopathy (Leigh). Correlations between NMDAS and audiological variables were low.