A specific mitochondrial DNA deletion (mtDNA(4977)) is identified in a pedigree of a family with hearing loss

This paper presents a family pedigree of sensorineural hearing loss in pati ents with a mitochondrial DNA (mtDNA) deletion. Genomic DNA screenings incl uding myo 15 and connexin 26 were normal. MtDNA deletions are associated wi th many pathophysiologic conditions, including neurological disorders, sens orineural hearing loss, ischemia, cardiomyopathies and aging. Several mitoc hondrial disorders secondary to mutations or deletions in mtDNA have been i dentified in association with deafness. The present study describes a pedig ree of five individuals with hearing loss who harbor a 4977 bp common aging deletion, in their mtDNA. Chromosomal analysis was normal in all affected individuals. Audiologic and molecular biologic findings of these patients s uggest that the common aging deletion of mtDNA may be a predisposing factor in sensorineural hearing loss in this family. (C) 2001 Elsevier Science B. V. All rights reserved.