A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene

Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T>C mutation has been reported in 28 patients to date (3, 5, 16, 26–44) (Table 1). There is a vast spectrum of clinical presentations and onset ages. According to the information presently available, the proportion of males is approximately 48%; the mean onset age ± standard deviation is 8.3y ± 10.7 y. In 2001, Taylor et al. first reported on a 42-year-old man with the m.10191T>C mutation who presented with a progressive history of epilepsy, stroke-like episodes (SLEs), bilateral optic atrophy, and cognitive decline (27); patient 2 was similar, with unremarkable clinical and MRI features that can only be identified as mitochondrial encephalomyopathy rather than any specific subtypes (33). The proband's aunt was diagnosed first with MELAS; however, we determined by genetic analysis that she has MELAS-LS overlap syndrome...
Source: Frontiers in Neurology - Category: Neurology Source Type: research