Letter to the Editor

The frequency of pathogenic mtDNA variants in African L-haplogroups depends on the degree of clarification and definition of the healthy population

Abstract

We read with interest the article by Meldau et al. on the frequency of pathogenic mtDNA variants in African L-haplogroups in patients with mitochondrial disorders (MIDs) from an African and a US center [1]. Haplogroup context was determined in 82 African and 165 US cases, 62 of which carried the L-haplogroup [1]. Unique L sub-haplogroups were identified in 11 families with the MELAS variant m.3243A>G, in 6 families with the LHON variant m.11778G>A, and in 20 cases with single large-scale mtDNA deletions [1]. The phenotypes of the included patients were similar to those described in other haplogroup cohorts [1]. The study is noteworthy, but several points should be discussed.