Prevalence of MT-RnR1 in the General Population

Abstract

Objective: Review the prevalence of MT-RNR1 genetic mutation and assess the need for neonatal screening prior to gentamicin therapy. A comprehensive search of MEDLINE, EMBASE, Cochrane Library, Clinical Evidence, and Cochrane Central Register of Trials was performed. The reference lists were cross-referenced. Review was restricted to human studies in English language.

Method: Studies describing the prevalence/incidence of MT-RNR1 gene mutations (A1555G, C1494T, A7445G) in the population. Relevant studies screening for presence for MT-RNR1 in patients receiving aminoglycoside therapy were included.

Results: Twenty-two articles out of 67 full papers and 206 abstracts from 1948 to November 2011 met the inclusion criteria. These included 9 prospective case-control studies, 12 case series, and a case report. There is weak evidence that MT-RNR1 is globally prevalent with racial bias especially in Chinese and Spanish populations. The prevalence/incidence ranged from 0.09%-2.9% in general population to 17% in the high-risk population. Weak evidence of neonatal sensorineural hearing loss following aminoglycoside exposure was also seen.

Conclusion: There is a need for large national epidemiological studies to assess the prevalence of MT-RNR. Some evidence of a global prevalence of MT-RNR1 with racial bias and link between aminoglycoside exposure and NSHL among at risk group. It is difficult to justify routine screening of patients for MT-RNR1 with the available literature.