M.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.

ABSTRACT: Variants in the mitochondrial genome can result in dysfunction of Complex I within the electron transport chain, thus causing disruptions in oxidative phosphorylation. Pathogenic variants in the MT-ND1 (NADH:ubiquinone oxidoreductase core subunit 1) gene that result in Complex I dysfunction are a known cause of Leigh syndrome. The patient is a 4-yr-old female who initially presented with generalized tonic-clonic seizures, with other symptoms of Leigh syndrome becoming apparent after the seizures. A three-generation pedigree revealed no family history of mitochondrial disorders. Laboratory studies were remarkable for elevated blood lactate, alanine, and GDF15. T₂-weighted magnetic resonance imaging (MRI) revealed bilateral asymmetric signal hyperintensities in the basal ga

SUBMITTER: Jean J 

PROVIDER: S-EPMC8958915 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature