Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A > G mutation in seven Han Chinese families

The m.3243A  > G mutation in the mitochondrial tRNALeu (UUR) gene is associated with a variety of phenotypic heterogeneity. The clinical spectrum and phenotypic-genotypic correlations in the Chinese patients are poorly understood. In the present study, we reported the clinical and genetic characterization, as w ell as haplogroups of seven Han Chinese families carrying the m.3243A > G mutation. Of the 39 matrilineal individuals, five suffered from mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), two had life-threatening mitochondrial myopathy (LTMM), and one patient had neuropathy, ataxia, and retinitis pigmentosa (NARP)-like syndrome.

Source: Journal of the Neurological Sciences - November 5, 2019 Category: Neurology Authors: Gailing Liu, Xiya Shen, Yongan Sun, Qing Lv, Yuanyuan Li, Ailian Du Source Type: research