Low heteroplasmy rates in clinically affected m.3243A   >  G carriers not necessarily explain the phenotype

In a recent article, Liu et al. reported about 17 patients from 7 Han families all carrying the m.3243A  > G variant who manifested phenotypically with mitochondrial leukoencephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (n = 5), myopathy (n = 2), neuropathy, ataxia, and retinitis pigmentosa (NARP) (n = 1), diabetes (n = 6), and hypoacusis (n = 3) [1]. Heteroplasmy rates in blood lymphocytes in these patients were highly variable, discordant to the clinical manifestations [1]. Among the clinically manifesting mutation carriers mutation loads ranged between 0 and 79% [1].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research