Non-Mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss.

Awareness of non-Mendelian mitochondrial inheritance and of its role as an agent of genetic sensorineural hearing loss (SNHL) is recent. Mitochondria are passed on exclusively from the ovum to all the offspring of both sexes, a novel pattern of inheritance. Owing to the critical role of mitochondria in cellular energy metabolism, deletions or point mutations of the mitochondrial DNA often cause progressive SNHL and a variety of disorders in other organ systems (mitochondrial cytopathies). The clinical expression of mitochondrial diseases varies and depends on the proportion of mutated mitochondria in various body tissues, as well as the nature of the mutation or deletion. In order to determine how often SNHL occurs in mitochondrial diseases and what is its presenting symptom, and also whether SNHL is a marker for particular phenotypes, we carried out a review of published case reports of patients with an established diagnosis of mitochondrial disease. The review indicates that SNHL occurs at all ages and in virtually all variants of mitochondrial diseases. It is not clear whether SNHL is a marker for a more severe and more rapid course of disease; the lower prevalence of SNHL in descriptions of live patients than of those who had died may be an artifact of case selection reported in the literature. Mitochondrial disease needs to be considered in progressive hearing loss and better longitudinal audiometric study of established cases will be required to answer these questions.